Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
Family Health History PHGKB

Specific PHGKB|Family Health History PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 18, 2024
spot light Spotlight

Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality.
Victoria Dortenzio et al. J Community Genet 2024 3 (Posted Apr 08, 2024 9AM)

From the abstract: "The goals of this study were to determine biobank participants’ attitudes towards genetic exceptionalism and confidentiality and whether those attitudes are related to their preference for return of genetic results. An online questionnaire was distributed to patients with an EHR and email address who had previously enrolled in the BioMe Biobank program. Most participants responded with similar levels of concern in scenarios involving the use of genetic information and other types of health information, suggesting that participants want similar protections for genetic data as other types of sensitive health information, particularly mental health and family history records. "

Susceptibility to Treatment-Resistant Depression Within Families.
Chih-Ming Cheng et al. JAMA Psychiatry 2024 4 (Posted Apr 05, 2024 9AM)

From the abstract: " Is the treatment-resistant depression (TRD) phenotype transmitted within a family? This cohort study found that, compared with control individuals match for birth year, sex, and kinship, first-degree-relatives of individuals with TRD had an increased risk of developing TRD and increased suicide mortality. The findings suggest that a family history of TRD might be a clinically significant risk factor for resistance to antidepressant treatment and increased suicide mortality, indicating that combining or altering therapies for depression might be considered instead of monotherapy at an earlier treatment stage. "

A call for increased inclusivity and global representation in pharmacogenetic testing.
April Kennedy et al. NPJ Genom Med 2024 2 (1) 13 (Posted Feb 23, 2024 3PM)

From the abstract: "Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing. "

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.
Ruidong Xiang et al. Genome Med 2024 2 (1) 33 (Posted Feb 22, 2024 11AM)

From the abstract: " We review the latest potential benefits of PGS in the clinic and challenges to implementation. PGS could augment risk stratification through combined use with traditional risk factors (demographics, disease-specific risk factors, family history, etc.), to support diagnostic pathways, to predict groups with therapeutic benefits, and to increase the efficiency of clinical trials. However, there exist challenges to maximizing the clinical utility of PGS, including FAIR (Findable, Accessible, Interoperable, and Reusable) use and standardized sharing of the genomic data needed to develop and recalculate PGS, the equitable performance of PGS across populations."


news Latest News and Publications
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples. External Web Site Icon
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Clinical features of prostate cancer by polygenic risk score. External Web Site Icon
Christina Spears et al. Fam Cancer 2024
Impact of Family History and Germline Genetic Risk Single Nucleotide Polymorphisms on Long-Term Outcomes of Favorable-Risk Prostate Cancer. External Web Site Icon
Florian Rumpf et al. J Urol 2024 101097JU0000000000003927
Prevalence of elevated lipoprotein(a) in cardiac rehabilitation patients - results from a large-scale multicentre registry in Germany. External Web Site Icon
Christoph Altmann et al. Clin Res Cardiol 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. External Web Site Icon
Emil K Gustavsson et al. Lancet Neurol 2024
The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges. External Web Site Icon
Siddharth Bhargava et al. J Glaucoma 2024
BRCA awareness and testing experience in the UK Jewish population: a qualitative study. External Web Site Icon
Katrina Sarig et al. J Med Genet 2024
The Health History of First-Degree Relatives' Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia. External Web Site Icon
Tomoharu Tokutomi et al. Genes (Basel) 2024 15(3)
Assessing Students' Knowledge and Attitudes Regarding the Risks and Prevention of Consanguineous Marriage: A Cross-Sectional Online Survey. External Web Site Icon
Ammar Abdulrahman Jairoun et al. J Multidiscip Healthc 2024 171251-1263
Lipoprotein(a): An important piece of the ASCVD risk factor puzzle across diverse populations. External Web Site Icon
Nicole Ciffone et al. Am Heart J Plus 2024 38100350
Low Rates of Colorectal Cancer Screening in Our Patients' First-Degree Relatives: Are We Failing Them? External Web Site Icon
Anyelin Almanzar et al. Dis Colon Rectum 2024
Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review. External Web Site Icon
Sook Pin Goh et al. BMC Cancer 2024 24(1) 316
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment. External Web Site Icon
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349
Integration and usability of a digital cancer risk stratification tool to optimize identification of patients at risk for hereditary cancers: A pilot study. External Web Site Icon
Emily M Webster et al. Gynecol Oncol 2024 1831-6
Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre. External Web Site Icon
Xin Wang et al. Clin Genitourin Cancer 2024 102052
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality. External Web Site Icon
Victoria Dortenzio et al. J Community Genet 2024
The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism. External Web Site Icon
Patrick T Hangge et al. Ann Surg Oncol 2024
Young Women's Perspectives on Being Screened for Hereditary Breast and Ovarian Cancer Risk During Routine Primary Care. External Web Site Icon
Mady Head et al. Womens Health Issues 2024
Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives. External Web Site Icon
Joshua J Nolan et al. Genet Med 2024 101103
Lipoprotein(a) testing in lipid clinics across the UK: Results of a national survey. External Web Site Icon
Saleem Ansari et al. J Clin Lipidol 2024
The frequency of colorectal lesions in the first-degree relatives of patients with colorectal lesions among PERSIAN Guilan Cohort Study population (PGCS). External Web Site Icon
Somaieh Matin et al. BMC Gastroenterol 2024 24(1) 88
Efficacy of Community Health Worker-Delivered Family Health History-Based Breast Cancer Education and Services Among Chinese Americans. External Web Site Icon
Bertille Assoumou et al. J Cancer Educ 2024
Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study. External Web Site Icon
Antoine Paul et al. Int J Neonatal Screen 2024 10(1)
Genetic Testing in Hypertrophic Cardiomyopathy. External Web Site Icon
Catherine G Ireland et al. Am J Cardiol 2024 212SS4-S13
Prediction of non-suicidal self-injury in adolescents at the family level using regression methods and machine learning. External Web Site Icon
Si Chen Zhou et al. J Affect Disord 2024 35267-75
Correlates of U.S. Adults Aged 50-75 Years Having Had a Colorectal Cancer Screening Test. External Web Site Icon
Aisha T Langford et al. AJPM Focus 2024 3(2) 100187
LFSPROShiny: An Interactive R/Shiny App for Prediction and Visualization of Cancer Risks in Families With Deleterious Germline TP53 Mutations. External Web Site Icon
Nam H Nguyen et al. JCO Clin Cancer Inform 2024 8e2300167
Genetic testing for familial hypercholesterolemia. External Web Site Icon
Yiyi Zhang et al. Curr Opin Lipidol 2024
Comparison of Two Strategies for Hypercholesterolemia Detection through Point-of-Care Testing. External Web Site Icon
Héctor Eliud Arriaga-Cázares et al. Diagnostics (Basel) 2024 14(2)
Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study. External Web Site Icon
Laney K Jones et al. J Clin Lipidol 2024
Recommendations for initial diabetic retinopathy screening of diabetic patients using large language model-based artificial intelligence in real-life case scenarios. External Web Site Icon
Nikhil Gopalakrishnan et al. Int J Retina Vitreous 2024 10(1) 11
A cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study). External Web Site Icon
A Di Pilla et al. Sci Rep 2024 14(1) 928
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease. External Web Site Icon
Mincheol Park et al. Neurol Genet 2024 10(1) e200115
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases. External Web Site Icon
Thomas Robert et al. Clin Kidney J 2024 17(1) sfad099
Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population. External Web Site Icon
Marian J Gilmore et al. Transl Behav Med 2024
Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome. External Web Site Icon
Noura Alhassan et al. J Epidemiol Glob Health 2024
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome. External Web Site Icon
Pavlina Chrysafi et al. Cancers (Basel) 2023 15(24)
Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure. External Web Site Icon
Joshua Nolan et al. Genet Med 2023 101051
Personalized medicine in a community health system: the NorthShore experience. External Web Site Icon
Sean P David et al. Front Genet 2023 141308738
Returning Genetic Information About Risk for Alcohol Use Disorder to Adolescents: Findings of a Preliminary Qualitative Study of Precision Prevention. External Web Site Icon
Elissa R Weitzman et al. AJPM Focus 2023 3(1) 100153
Age Matters: Adenoma Detection Rates in Average-risk Screening Patients Aged 45 to 49 Compared With Those Aged 50 to 54. External Web Site Icon
Shuji Mitsuhashi et al. J Clin Gastroenterol 2023
Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview. External Web Site Icon
Adelina Pupaza et al. Diagnostics (Basel) 2023 13(23)
Associations between alcohol use disorder polygenic score and remission in participants from high-risk families and Indiana biobank. External Web Site Icon
Dongbing Lai et al. Alcohol Clin Exp Res (Hoboken) 2023
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction. External Web Site Icon
Anja Tüchler et al. Breast 2023 73103615
Family history, socioeconomic factors, comorbidities, health behaviors, and the risk of sudden cardiac arrest. External Web Site Icon
Eujene Jung et al. Sci Rep 2023 13(1) 21341
Impact of family history of cancer on colorectal cancer screening: a propensity score-matched analysis from the Health Information National Trends Survey (HINTS). External Web Site Icon
Maxwell Akonde et al. J Egypt Natl Canc Inst 2023 35(1) 38
Precision Recruitment and Engagement of Individuals at Risk for Diabetes and Hypertension in Clinical Trials (PREDHICT): A Randomized Trial for an E-Persuasive Mobile Application to Inform Decision Making about Clinical Trials. External Web Site Icon
Azizi Seixas et al. Int J Environ Res Public Health 2023 20(23)
Unawareness of breast cancer family history among African women. External Web Site Icon
Babatunde Adedokun et al. Pan Afr Med J 2023 45188
Affected brother as the highest risk factor of type 1 diabetes development in children and adolescents: One center data before implementing type 1 diabetes national screening. External Web Site Icon
Anna Wedrychowicz et al. Adv Clin Exp Med 2023
Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment. External Web Site Icon
Basmah Alhassan et al. Ann Surg Oncol 2023
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use. External Web Site Icon
Neeta L Vora et al. Prenat Diagn 2023
Rate of Pathogenic Germline Variants in Patients With Lung Cancer. External Web Site Icon
Steven Sorscher et al. JCO Precis Oncol 2023 7e2300190
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer. External Web Site Icon
Jennifer Thalita Targino Dos Santos et al. Genes (Basel) 2023 14(11)
Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer. External Web Site Icon
Hareem Syed et al. J Natl Compr Canc Netw 2023 21(11) 1156-1163.e5
Colorectal Cancer Screening for Persons With a Positive Family History—Evaluation of the FARKOR Program for the Secondary Prevention of Colorectal Cancer in Persons Aged 25 to 50. External Web Site Icon
Alexander Crispin et al. Dtsch Arztebl Int 2023 (Forthcoming)
Current practice of cancer predisposition testing in pediatric patients with CNS tumors in the United States. External Web Site Icon
Baylee Roy et al. Pediatr Blood Cancer 2023 e30725
Family History and Risk of Renal Cell Carcinoma: A National Multi-Register Case-Control Study. External Web Site Icon
Rasmus G Jakobsson et al. J Urol 2023 101097JU0000000000003765
Knowledge, Attitude, and Practice About the Process of Genetic Counselling Among Clinicians. External Web Site Icon
Jyoti P Kulkarni et al. Cureus 2023 15(9) e45883
Management of Women at High Risk for Breast Cancer. External Web Site Icon
Lashika Yogendran et al. J Am Board Fam Med 2023
Province-Wide Ascertainment of Lynch Syndrome in Manitoba. External Web Site Icon
Heidi Rothenmund et al. Clin Gastroenterol Hepatol 2023
The diagnostic yield of genetic testing in patients with multiple colorectal adenomas: a specialist centre cohort study. External Web Site Icon
Sau Mak et al. Clin Transl Gastroenterol 2023
Genetic and Nongenetic Components of Stroke Family History: A Population Study of Adopted and Nonadopted Individuals. External Web Site Icon
Ernst Mayerhofer et al. J Am Heart Assoc 2023 12(20) e031566
How and Why to Organize Family-Based Screening Clinics for Hypertrophic Cardiomyopathy. External Web Site Icon
Bryana J Rivers et al. Can J Cardiol 2023
Prediction of clinically significant prostate cancer through urine metabolomic signatures: A large-scale validated study. External Web Site Icon
Hsiang-Po Huang et al. J Transl Med 2023 21(1) 714
AGA Clinical Practice Update on Risk Stratification for Colorectal Cancer Screening and Post-Polypectomy Surveillance: Expert Review. External Web Site Icon
Rachel B Issaka et al. Gastroenterology 2023
Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders. External Web Site Icon
Chelsea Chambers et al. Neurol Clin Pract 2023 13(5) e200201
Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing. External Web Site Icon
Deborah Cragun et al. Curr Oncol 2023 30(9) 8352-8362
Polygenic Scores for Longitudinal Prediction of Incident Type 2 Diabetes in an Ancestrally and Medically Diverse Primary Care Network. External Web Site Icon
Ravi Mandla et al. medRxiv 2023
Premature atherosclerosis: An analysis over 39 years in the Netherlands. Implications for young individuals in high-risk families. External Web Site Icon
Juliette Crooijmans et al. Atherosclerosis 2023 117267
Do physicians know when to refer patients for genetic testing? External Web Site Icon
R John Presutti et al. J Genet Couns 2023
Machine learning-based diagnosis and risk classification of coronary artery disease using myocardial perfusion imaging SPECT: A radiomics study. External Web Site Icon
Mehdi Amini et al. Sci Rep 2023 13(1) 14920
Does the amount of family history matter? Perspectives of adult adoptees. External Web Site Icon
Alyssa Williams et al. J Genet Couns 2023
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study. External Web Site Icon
Manuela Casula et al. Atherosclerosis 2023 117231
Same day service: A genetic testing station model to improve germline genetic testing in patients with ovarian cancer. External Web Site Icon
Nicole Marjon et al. Gynecol Oncol 2023 17753-59
An Interpretable Longitudinal Preeclampsia Risk Prediction Using Machine Learning. External Web Site Icon
Braden W Eberhard et al. medRxiv 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing. External Web Site Icon
Melanie Zheng et al. EBioMedicine 2023 95104747
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome. External Web Site Icon
Kaylee A Underkofler et al. Hered Cancer Clin Pract 2023 21(1) 15
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer. External Web Site Icon
Panagiotis Baliakas et al. J Med Genet 2023
Family History of Alzheimer's Disease Increases the Risk of COVID-19 Positivity: A SUMS Employees Cohort-based Study. External Web Site Icon
Masoumi Seyed Jalil, et al. Journal of biomedical physics & engineering 2023 0 0. (4) 363-366
Comparisons of the prediction models for undiagnosed diabetes between machine learning versus traditional statistical methods. External Web Site Icon
Seong Gyu Choi et al. Sci Rep 2023 13(1) 13101
A Community Health Worker Model to Support Hereditary Cancer Risk Assessment and Genetic Testing. External Web Site Icon
Leah Marsh et al. Obstet Gynecol 2023
Risk Factors for Developing Both Primary Breast and Primary Ovarian Cancer: A Systematic Review. External Web Site Icon
Jennifer S Ferris et al. Crit Rev Oncol Hematol 2023 104081
Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme. External Web Site Icon
Tim L Kortlever et al. Br J Cancer 2023
iKNOWgynetics - A web-based learning concept to empower primary care gynecologists to participate in the care of patients with a family history of breast and ovarian cancer. External Web Site Icon
Dorothee Speiser et al. J Genet Couns 2023
Barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK). External Web Site Icon
Valencia Kabeya et al. J Genet Couns 2023
Integrating Theory with Education about Genetic Risk for Alcohol Use Disorder: The Effects of a Brief Online Educational Tool on Elements of the Health Belief Model. External Web Site Icon
Morgan N Driver et al. Complex Psychiatry 2023 9(1-4) 89-99
Low-dose CT screening in relatives with a family history of lung cancer. External Web Site Icon
Chi-Liang Wang et al. J Thorac Oncol 2023
Genetic and non-genetic components of family history of stroke and heart disease: a population-based study among adopted and non-adopted individuals. External Web Site Icon
Ernst Mayerhofer et al. medRxiv 2023
Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System. External Web Site Icon
Diana S Hsu et al. Ann Surg Oncol 2023
Inappropriate Multi-Target Stool DNA Use for Colorectal Cancer Screening: Risks, Compliance, and Outcomes. External Web Site Icon
Nicholas J Lazar et al. Cureus 2023 15(6) e40506
Influence of Colorectal Cancer Risk Factors on Predictive Value of a Positive Multitarget Stool DNA Test. External Web Site Icon
Kaden R Narayani et al. J Clin Gastroenterol 2023
The relationship between family history of cancer and cancer attitudes & beliefs within the Community Initiative Towards Improving Equity and Health Status (CITIES) cohort. External Web Site Icon
Li Lin et al. PLoS One 2023 18(6) e0287629
The Role of Hyposthenuria in Enuresis Among Paediatric Patients With Sickle Cell Disease. External Web Site Icon
Jasim N Al-Asadi et al. Sultan Qaboos Univ Med J 2023 23(2) 206-211
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon's practice in a large US Academic Center. External Web Site Icon
Teresa S Chai et al. Fam Cancer 2023
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. External Web Site Icon
Monica S Thakar et al. Lancet 2023
Molecular testing of endometrial carcinoma in real-world clinical practice. External Web Site Icon
M Bednaríková et al. Klin Onkol 2023 36(3) 215-223
Prevalence of hypercholesterolaemia in outpatient children aged 9-11 years. External Web Site Icon
Nour Ibrahim et al. Ann Med Surg (Lond) 2023 85(6) 2564-2567
Temporal and Racial Trends in Prostate Specific Antigen Screening for US Men With Family History of Prostate Cancer. External Web Site Icon
Deepansh Dalela et al. Urol Pract 2023 101097UPJ0000000000000419
Adherence to Risk-Reducing Salpingo-Oophorectomy Guidelines Among Gynecologic Oncologists Compared to General Gynecologists. External Web Site Icon
Pegah Blustein et al. Am J Obstet Gynecol 2023
Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result. External Web Site Icon
María Sanz Fernández et al. Horm Metab Res 2023
Breast cancer risk stratification using genetic and non-genetic risk assessment tools for 246,142 women in the UK Biobank. External Web Site Icon
Peh Joo Ho et al. Genet Med 2023 100917
Current chemoprevention approaches in Lynch syndrome and Familial adenomatous polyposis: a global clinical practice survey. External Web Site Icon
Kathryn A Mraz et al. Front Oncol 2023 131141810
Importance of GWAS risk loci and clinical data in predicting asthma using machine-learning approaches. External Web Site Icon
Zan-Mei Qin et al. Comb Chem High Throughput Screen 2023
Predicting Breast Cancer Risk for Women Veterans of African Ancestry in the Million Veteran Program. External Web Site Icon
Shiuh-Wen Luoh et al. Health Equity 2023 7(1) 303-306
Evaluation of an Artificial Intelligence System for Detection of Invasive Lobular Carcinoma on Digital Mammography. External Web Site Icon
Sylvia Arce et al. Cureus 2023 15(5) e38770
Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members. External Web Site Icon
Abigail Rousseau et al. J Community Health 2023 1-7
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes. External Web Site Icon
Nanna Bæk Møller et al. Sci Rep 2023 13(1) 8536
[Association between clinical phenotypes of hypertrophic cardiomyopathy and Ca gene variation gene variation]. External Web Site Icon
J Zhao et al. Zhonghua Xin Xue Guan Bing Za Zhi 2023 51(5) 497-503
Low LDL-C goal attainment in patients at very high cardiovascular risk due to lacking observance of the guidelines on dyslipidaemias. External Web Site Icon
Michal Vrablík et al. PLoS One 2023 18(5) e0272883
Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic. External Web Site Icon
Jakub Scaber et al. Eur J Neurol 2023
Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome. External Web Site Icon
Sayoni Lahiri et al. Cancer Control 2023 3010732748231175011
Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program. External Web Site Icon
Jeremy C Jones et al. Cureus 2023 15(4) e37428
BRCA1/2 testing rates in epithelial ovarian cancer: a focus on the untested patients. External Web Site Icon
Lieke Lanjouw et al. Int J Gynecol Cancer 2023
Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. External Web Site Icon
Hiroshi Miyama et al. Cardiol Res Pract 2023 20232236422
Epigenetic changes in sperm are associated with paternal and child quantitative autistic traits in an autism-enriched cohort. External Web Site Icon
Jason I Feinberg et al. Mol Psychiatry 2023
Missing a chance to prevent: disparities in completion of genetic evaluation in high-risk patients with endometrial cancer. External Web Site Icon
Sharonne Holtzman et al. J Gynecol Oncol 2023
Patient perspectives on risk-reducing salpingectomy with delayed oophorectomy for ovarian cancer risk-reduction: A systematic review of the literature. External Web Site Icon
Luiza Perez et al. Gynecol Oncol 2023 173106-113
Advancing health equity: A qualitative study assessing barriers and facilitators of implementing hereditary breast and ovarian cancer risk screening tools in community-based organizations. External Web Site Icon
Alexandra Bowen et al. J Genet Couns 2023
Development and validation of a simple prostate cancer risk prediction model based on age, family history, and polygenic risk. External Web Site Icon
Gillian S Dite et al. Prostate 2023
Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention. External Web Site Icon
Annie T Chen et al. JMIR Cancer 9e43126
Patients with deleterious germline mutations: A heterogeneous population for pancreatic cancer screening? External Web Site Icon
Alexandra M Roch et al. J Surg Oncol
Risk Factors for Early Onset Sporadic Colorectal Cancer in Male Veterans. External Web Site Icon
Thomas F Imperiale et al. Cancer Prev Res (Phila)
Primary Care Physicians' Perspectives on Identifying Familial Hypercholesterolaemia in Primary Care: A Qualitative Study. External Web Site Icon
Hasidah Abdul-Hamid et al. Ann Fam Med 2023 (21 Suppl 1)
Thrombophilia Testing - a Systematic Review. External Web Site Icon
Lars Asmis et al. Clin Lab 2023 69(4)
Ultrasound screening for thyroid nodules and cancer in individuals with family history of thyroid cancer: a micro-costing approach. External Web Site Icon
G Grani et al. J Endocrinol Invest 2023
Web-based tool for cancer family history collection: A prospective randomized controlled trial. External Web Site Icon
Melissa K Frey et al. Gynecol Oncol 2023 17322-30
A population-wide analysis of the familial risk of suicide in Utah, USA. External Web Site Icon
Amanda V Bakian et al. Psychological medicine 2023 53(4) 1448-1457
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. External Web Site Icon
Maximilian Wiesenfarth et al. Brain communications 2023 5(2) fcad087
Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease. External Web Site Icon
Amanda Jowell et al. European journal of preventive cardiology 2023
Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma. External Web Site Icon
Kum Hei Ryu et al. Cancer research and treatment 2023
Single Gene Non-invasive Prenatal Screening (NIPS-SGD) for Autosomal Dominant Conditions in a High-risk Cohort. External Web Site Icon
Sophie Adams et al. Prenatal diagnosis 2023
Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients. External Web Site Icon
Kelsey E Breen et al. The Journal of urology 2023 101097JU0000000000003186
Genetic Risk Scores and Missing Heritability in Ovarian Cancer. External Web Site Icon
Yasaman Fatapour et al. Genes 2023 14(3)
Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population. External Web Site Icon
Tetske Dijkstra et al. European journal of human genetics : EJHG 2023
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis. External Web Site Icon
Arianna Dal Buono et al. Cancers 2023 15(6)
Clinical exome sequencing findings in 1589 patients. External Web Site Icon
Ozlem Gorukmez et al. American journal of medical genetics. Part A 2023
Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care. External Web Site Icon
Christine M Gunn et al. Cancer control : journal of the Moffitt Cancer Center 2023 3010732748221143884
Individuals with a Family History of Colorectal Cancer Warrant Tailored Interventions to Address Patient-Reported Barriers to Screening. External Web Site Icon
Shailavi Jain et al. Clinical and translational gastroenterology 2023
Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not". External Web Site Icon
Melodie Tedross et al. Journal of genetic counseling 2023
Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment. External Web Site Icon
Fionnuala Crowley et al. The oncologist 2023
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey. External Web Site Icon
Chloe Mighton et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100819
Prophylactic salpingectomy with delayed oophorectomy as a two-staged alternative for primary prevention of ovarian cancer in BRCA1/2 mutation carriers: women's point of view. External Web Site Icon
Aya Mohr-Sasson et al. Menopause (New York, N.Y.) 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration. External Web Site Icon
Johanna M Seddon et al. Ophthalmology science 2023 3(2) 100265
Are population level familial risks and germline genetics meeting each other? External Web Site Icon
Kari Hemminki et al. Hereditary cancer in clinical practice 2023 21(1) 3
Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital. External Web Site Icon
Lauren G Santos et al. JAMA network open 2023 6(3) e231723
Association of Breast Cancer Family History With Breast Density Over Time in Korean Women. External Web Site Icon
Thi Xuan Mai Tran et al. JAMA network open 2023 6(3) e232420
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil. External Web Site Icon
Patricia Mazzonetto et al. Breast cancer research and treatment 2023
Characterization of Chronic Urticaria and Associated Conditions - A Web-Based Survey. External Web Site Icon
Weronika Zysk et al. Dermatology practical & conceptual 2023 13(1)
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. External Web Site Icon
Hiroo Fujitani et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023
The Clinical Picture and Fecundity of Primary and Recurrent Ovarian Endometriosis with Family History: A Retrospective Analysis. External Web Site Icon
Bingning Xu et al. Journal of clinical medicine 2023 12(5)
The role of community health advisors' cancer history in implementation and efficacy of a cancer control intervention. External Web Site Icon
Maisha R Huq et al. Health education research 2023
Undiagnosed hypertension and its determinants among hypertensive patients in rural districts of northwest Ethiopia: a mediation analysis. External Web Site Icon
Destaw Fetene Teshome et al. BMC health services research 2023 23(1) 222
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk? External Web Site Icon
Thomas May et al. Family practice 2023
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer. External Web Site Icon
Tugba Akin Duman et al. Journal of human genetics 2023
Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems. External Web Site Icon
Katrina M Romagnoli et al. Public health genomics 2023
Strategies to Improve Adherence to Skin Self-examination and Other Self-management Practices in People at High Risk of Melanoma: A Scoping Review of Randomized Clinical Trials. External Web Site Icon
Deonna M Ackermann et al. JAMA dermatology 2023
Validation of an abridged breast cancer risk prediction model for the general population. External Web Site Icon
Erika L Spaeth et al. Cancer prevention research (Philadelphia, Pa.) 2023
Combining Breast Cancer Risk Prediction Models. External Web Site Icon
Zoe Guan et al. Cancers 2023 15(4)
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). External Web Site Icon
Melissa T Carter et al. Journal of medical genetics 2023
Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes. External Web Site Icon
Derk C F Klatte et al. Preventive medicine reports 2023 31102110
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients. External Web Site Icon
Yasuo Suzuki et al. Genes 2023 14(2)
Polygenic Risk of Prediabetes, Undiagnosed Diabetes, and Incident Type 2 Diabetes Stratified by Diabetes Risk Factors. External Web Site Icon
Xiaonan Liu et al. Journal of the Endocrine Society 2023 7(4) bvad020
Primary and Secondary Prevention Interventions to Reduce Risk Factors Associated with Colorectal Cancer in High-Risk Groups: a Systematic Literature Review. External Web Site Icon
Madison Frieler et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2023
Sudden cardiac death in the young: An update for NPs. External Web Site Icon
Julianne Doucette et al. The Nurse practitioner 2023 48(3) 21-28
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause. External Web Site Icon
An Boudewyns et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2023
The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases. External Web Site Icon
Emanuele Monda et al. Diagnostics (Basel, Switzerland) 2023 13(4)
Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia. External Web Site Icon
Andrea Aparicio et al. Journal of clinical medicine 2023 12(3)
Germline pathogenic variants in 786 neuroblastoma patients. External Web Site Icon
Jung Kim et al. medRxiv : the preprint server for health sciences 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants. External Web Site Icon
Gili Reznick Levi et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study. External Web Site Icon
Jane M Tiller et al. Journal of medical genetics 2023
The Michigan Genetic Hereditary Testing (MiGHT) study's innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial. External Web Site Icon
Lynette Hammond Gerido et al. Trials 2023 24(1) 105
Implementation of five machine learning methods to predict the 52-week blood glucose level in patients with type 2 diabetes. External Web Site Icon
Xiaomin Fu et al. Frontiers in endocrinology 2023 131061507
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study. External Web Site Icon
Francesca Tavano et al. Molecular medicine (Cambridge, Mass.) 2023 29(1) 14
Phenotypes of Overdiagnosed Long QT Syndrome. External Web Site Icon
Sahej Bains et al. Journal of the American College of Cardiology 2023 81(5) 477-486
A Focused Clinical Review of Lynch Syndrome. External Web Site Icon
Demetra Georgiou et al. Cancer management and research 2023 1567-85
Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists. External Web Site Icon
Flavia Piciacchia et al. Circulation. Genomic and precision medicine 2023 1
Performance of cardiovascular disease risk prediction equations in more than 14 000 survivors of cancer in New Zealand primary care: a validation study. External Web Site Icon
Essa Tawfiq et al. Lancet (London, England) 2023
EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy. External Web Site Icon
Schmidt Marjanka K et al. European journal of cancer (Oxford, England : 1990) 2023 18179-91
Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes. External Web Site Icon
Vanderwal April et al. Journal of genetic counseling 2023
Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer. External Web Site Icon
Abdel-Razeq Hikmat et al. Breast cancer (Dove Medical Press) 2023 151-10
Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members. External Web Site Icon
Winskill Carolyn et al. Public health genomics 2023
Usefulness of podcasts to provide public education on prostate cancer genetics. External Web Site Icon
Loeb Stacy et al. Prostate cancer and prostatic diseases 2023
Stroke prevention in rural residents: development of a simplified risk assessment tool with artificial intelligence. External Web Site Icon
Ding Zhongao et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023
Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study. External Web Site Icon
Salehzadeh Farhad, et al. Iranian journal of medical sciences 2023 0 0. (1) 43-48
At What Age Should We Stop Colorectal Cancer Screening? When Is Enough, Enough? External Web Site Icon
Lieberman David et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 32(1) 6-8
Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing. External Web Site Icon
Cummings Shelly et al. JCO precision oncology 2023 7e2200415
Cardiovascular risk-enhancing factors and coronary artery calcium in South Asian American adults: The MASALA study. External Web Site Icon
Shah Harini et al. American journal of preventive cardiology 2023 13100453
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden. External Web Site Icon
Kim Seondeuk et al. Annals of clinical and translational neurology 2023
Development and usage of a health recommendation web tool (HeaRT) designed to inform women of personalized preventive health recommendations. External Web Site Icon
Greenberg Keren L et al. Internet interventions 2023 31100599
Returning integrated genomic risk and clinical recommendations: the eMERGE study. External Web Site Icon
Linder Jodell E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100006
The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study. External Web Site Icon
Chu Dinh-Toi et al. Expert review of molecular diagnostics 2023
Use of Family History of cardiovascular disease or chronic hypertension to better identify who needs postpartum cardiovascular risk screening. External Web Site Icon
Ackerman-Banks Christina M et al. American journal of obstetrics & gynecology MFM 2023 100850
Validity of self-reported hypertension and related factors in the adult population: Preliminary results from the cohort in the west of Iran. External Web Site Icon
Piri Negar et al. Journal of clinical hypertension (Greenwich, Conn.) 2023
Walking pace, handgrip strength, age, APOE genotypes, and new-onset dementia: the UK Biobank prospective cohort study. External Web Site Icon
He Panpan et al. Alzheimer's research & therapy 2023 15(1) 9
Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant. External Web Site Icon
Bang Yoon Ju et al. Annals of surgical treatment and research 2023 103(6) 323-330
Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative. External Web Site Icon
Maurer Marcus et al. The World Allergy Organization journal 2023 16(1) 100729
Genetic Risk Prediction for Prostate Cancer: Implications for Early Detection and Prevention. External Web Site Icon
Seibert Tyler M et al. European urology 2023
Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants. External Web Site Icon
Subasioglu Asli et al. European journal of breast health 2023 19(1) 55-69
Insurance Coverage of Prophylactic Mastectomies: A National Review of the United States. External Web Site Icon
Ha Michael et al. Clinical breast cancer 2023
Lung Cancer Risk Prediction Nomogram in Nonsmoking Chinese Women: Retrospective Cross-sectional Cohort Study. External Web Site Icon
Guo Lanwei et al. JMIR public health and surveillance 2023 9e41640
Melanoma Survival by Age Group: Population-Based Disparities for Adolescent and Young Adult Patients by Stage, Tumor Thickness, and Insurance Type. External Web Site Icon
Wojcik Katherine Y et al. Journal of the American Academy of Dermatology 2023
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations. External Web Site Icon
De Michele Giovanna et al. Acta neurologica Belgica 2023
Relationship among genetic variants, obesity traits and asthma in the Taiwan Biobank. External Web Site Icon
Huang Ying-Jhen et al. BMJ open respiratory research 2023 9(1)
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. External Web Site Icon
Terek Shannon et al. Journal of personalized medicine 2022 12(12)
Breast cancer risk factors in Iranian women: a systematic review and meta-analysis of matched case-control studies. External Web Site Icon
Khoramdad Malihe et al. European journal of medical research 2022 27(1) 311
Development and validation of the prediction models for preeclampsia: a retrospective, single-center, case-control study. External Web Site Icon
Chen Xuhong et al. Annals of translational medicine 2022 10(22) 1221
Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults. External Web Site Icon
Delplanque Marion et al. Rheumatology (Oxford, England) 2022
Genetic testing in privately insured women with surgically treated breast cancer. External Web Site Icon
Dinan Michaela A et al. Breast cancer research and treatment 2022
Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test? External Web Site Icon
Metcalfe Kelly A et al. Cancer medicine 2022
Maternal Inheritance of Familial Hypercholesterolemia Gene Mutation Predisposes to Coronary Atherosclerosis as Assessed by Calcium Score in Adulthood. External Web Site Icon
Mourre Florian et al. Arteriosclerosis, thrombosis, and vascular biology 2022
Prevalence of prediabetes and associated factors of prediabetic stages: a cross-sectional study among adults in Nepal. External Web Site Icon
Shakya Pushpanjali et al. BMJ open 2022 12(12) e064516
Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies. External Web Site Icon
Michaelson-Cohen Rachel et al. Cancers 2022 14(24)
Systematic review of long QT syndrome identified during fetal life. External Web Site Icon
Chivers Sian et al. Heart rhythm 2022
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic. External Web Site Icon
Stafford Fergus et al. Genome medicine 2022 14(1) 145
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. External Web Site Icon
Hoorntje Edgar T et al. Circulation. Genomic and precision medicine 2022 e003672
Prediction model of obstructive sleep apnea-related hypertension: Machine learning-based development and interpretation study. External Web Site Icon
Shi Yewen et al. Frontiers in cardiovascular medicine 2022 91042996
A combined clinical and genetic model for predicting risk of ovarian cancer. External Web Site Icon
Dite Gillian S et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2022 32(1) 57-64
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease. External Web Site Icon
Jiao Yue et al. European journal of cancer (Oxford, England : 1990) 2022 17976-86
Characterisation and long-term follow-up of children with Brugada syndrome: experience from a tertiary paediatric referral centre. External Web Site Icon
Fernandes Sara I L et al. Cardiology in the young 2022 1-6
Family History of Prostate Cancer and Survival Outcomes in the UK Genetic Prostate Cancer Study. External Web Site Icon
Brook Mark N et al. European urology 2022
BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers. External Web Site Icon
Sun Jie et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200833
CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer. External Web Site Icon
Nyberg Tommy et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2201453
Familial load of psychiatric disorders and overall functioning in patients newly diagnosed with bipolar disorder and their unaffected first-degree relatives. External Web Site Icon
Sletved Kimie Stefanie Ormstrup et al. International journal of bipolar disorders 2022 10(1) 28
PRState: Incorporating genetic ancestry in prostate cancer risk scores for men of African ancestry. External Web Site Icon
Pagadala Meghana S et al. BMC cancer 2022 22(1) 1289
North American genetic counselors' approach to collecting and using ancestry in clinical practice. External Web Site Icon
Hubbel Alexandra et al. Journal of genetic counseling 2022
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI). External Web Site Icon
Poteet Bonnie et al. Journal of assisted reproduction and genetics 2022
Prevalence and characteristics of family history of sudden unexplained death and predictors of negative attitude of family members toward medical autopsy and family screening in Saudi Arabia: A cross-sectional study. External Web Site Icon
Alqarawi Wael et al. PloS one 2022 17(11) e0277914
Risk-Adapted Starting Age for Personalized Colorectal Cancer Screening: Validated Evidence from National Population-Based Studies. External Web Site Icon
Dong Xuesi et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2022
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility. External Web Site Icon
Lee Ning Yuan et al. Human genomics 2022 16(1) 61
Association Between Family History and Risk of Pancreatic Cancer in Patients With BRCA1 and BRCA2 Pathogenic Variants. External Web Site Icon
Shah Ishani et al. Pancreas 2022 51(7) 733-738
Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. External Web Site Icon
Tamayo Lizeth I et al. Frontiers in oncology 2022 12940162
Equivalent Impact of Elevated Lipoprotein(a) and Familial Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease. External Web Site Icon
Hedegaard Berit Storgaard et al. Journal of the American College of Cardiology 2022 80(21) 1998-2010
Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD). External Web Site Icon
Sekine Akinari et al. Journal of clinical medicine 2022 11(21)
Exploring People's Knowledge of Genetics and Attitude towards Genetic Testing: A Cross-Sectional Study in a Population with a High Prevalence of Consanguinity. External Web Site Icon
Alotaibi Amal et al. Healthcare (Basel, Switzerland) 2022 10(11)
Lifestyle Behavior Interventions for Preventing Cancer in Adults with Inherited Cancer Syndromes: Systematic Review. External Web Site Icon
Diez de Los Rios de la Serna Celia et al. International journal of environmental research and public health 2022 19(21)
Development of prognostic model for preterm birth using machine learning in a population-based cohort of Western Australia births between 1980 and 2015. External Web Site Icon
Wong Kingsley et al. Scientific reports 2022 12(1) 19153
Advances and Applications of Polygenic Scores for Coronary Artery Disease. External Web Site Icon
Patel Aniruddh P et al. Annual review of medicine 2022
Factors associated with the decision to undergo risk-reducing salpingo-oophorectomy among women at high risk for hereditary breast and ovarian cancer: a systematic review. External Web Site Icon
Park Sun-Young et al. Korean journal of women health nursing 2022 26(4) 285-299
Genetic Testing Among Patients with High-Risk Breast, Ovarian, Pancreatic, and Prostate Cancers. External Web Site Icon
Clark Nina M et al. Annals of surgical oncology 2022
Hereditary variants of unknown significance in African American women with breast cancer. External Web Site Icon
McDonald J Tyson et al. PloS one 2022 17(10) e0273835
Pediatric manifestations of Lynch Syndrome: A single center experience. External Web Site Icon
MacArthur Taleen A et al. Journal of pediatric surgery case reports 2022 86
Which Individuals with Positive Family History of Gastric Cancer Urgently Need Intensive Screening and Eradication of Helicobacter Pylori? A Systematic Review and Meta-Analysis. External Web Site Icon
He Gui et al. Iranian journal of public health 2022 50(12) 2384-2396
COVID-19 Vaccination-Induced Ventricular Fibrillation in an Afebrile Patient With Brugada Syndrome. External Web Site Icon
Lim Kyung Hee, et al. Journal of Korean medical science 2022 0 0. (42) e306
A Cluster Randomized Trial of a Family Health History Platform to Identify and Manage Patients at Increased Risk for Colorectal Cancer. External Web Site Icon
Voils Corrine I et al. Journal of general internal medicine 2022
Application of Multigene Panels Testing for Hereditary Cancer Syndromes. External Web Site Icon
Bilyalov Airat et al. Biology 2022 11(10)
Association between A Family History of Colorectal Cancer and the Risk of Colorectal Cancer: A Nationwide Population-Based Study. External Web Site Icon
Jung Yoon Suk et al. Journal of personalized medicine 2022 12(10)
Awareness, Knowledge, Perceptions, and Attitudes towards Familial and Inherited Cancer. External Web Site Icon
Alghuson Lolowah et al. Medicina (Kaunas, Lithuania) 2022 58(10)
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy. External Web Site Icon
Negri Serena et al. Molecular genetics & genomic medicine 2022 e2071
Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study. External Web Site Icon
Moreno Antonio M Puppo et al. Revista espanola de cardiologia (English ed.) 2022
Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center. External Web Site Icon
Zang Benedikt et al. Archives of gynecology and obstetrics 2022
Breast cancer incidence among women with a family history of breast cancer by relative's age at diagnosis. External Web Site Icon
Durham Danielle D et al. Cancer 2022
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach. External Web Site Icon
El Ters Mireille et al. Transplantation 2022
BRCA1/2 Variants Identified Through Tumor Genomic Profiling: Assessing Genetic Counseling Outcomes. External Web Site Icon
Harriman Jamie W et al. JCO precision oncology 2022 6e2100375
Initial outcomes and insights from a novel high-risk prostate cancer screening clinic. External Web Site Icon
Harper Jonathan B et al. The Prostate 2022
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program. External Web Site Icon
Leibowitz Ruth et al. Australian journal of primary health 2022
The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US. External Web Site Icon
Saadatagah Seyedmohammad et al. American journal of preventive cardiology 2022 12100393
The impact of family history of type 2 diabetes on the clinical heterogeneity in idiopathic type 1 diabetes. External Web Site Icon
Chen Yan et al. Diabetes, obesity & metabolism 2022
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence. External Web Site Icon
Lee Andrew et al. Journal of medical genetics 2022
Genetic testing for patients at risk of hereditary breast and ovarian cancer. External Web Site Icon
DeTroye Alisha et al. JAAPA : official journal of the American Academy of Physician Assistants 2022 35(10) 48-52
Monogenic diabetes clinic (MDC): 3-year experience. External Web Site Icon
Rapini Novella et al. Acta diabetologica 2022
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance. External Web Site Icon
Viall Sarah et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study. External Web Site Icon
Yang Xin et al. Journal of medical genetics 2022
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants. External Web Site Icon
Ohneda Kinuko et al. Breast cancer (Tokyo, Japan) 2022
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. External Web Site Icon
Mehta Puja R et al. Brain : a journal of neurology 2022
The SCRIPT trial: study protocol for a randomised controlled trial of a polygenic risk score to tailor colorectal cancer screening in primary care. External Web Site Icon
Saya Sibel et al. Trials 2022 23(1) 810
Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. External Web Site Icon
Loveday C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2022
Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history. External Web Site Icon
Raffaele Gabriella et al. American journal of medical genetics. Part A 2022
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020. External Web Site Icon
Tiner Jessica C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases. External Web Site Icon
Lakeman Inge M M et al. Journal of medical genetics 2022
Familial Pancreatic Cancer. External Web Site Icon
Saba Helena et al. Gastroenterology clinics of North America 2022 51(3) 561-575
Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing. External Web Site Icon
Llorin Hannah et al. Cancer genetics 2022 268-26922-27
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD. External Web Site Icon
Lieberman Kenneth V et al. Kidney360 2022 3(5) 900-909
Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative. External Web Site Icon
Baker Anna et al. Journal of personalized medicine 2022 12(9)
Asia-Pacific Colorectal Screening Score Combined with Stool DNA Test Improves the Detection Rate for Colorectal Advanced Neoplasms. External Web Site Icon
Xu Junfeng et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2022
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features. External Web Site Icon
Wang Yu et al. JAMA cardiology 2022
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes. External Web Site Icon
Ansar Safa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Familial component of early-onset colorectal cancer: opportunity for prevention. External Web Site Icon
Daca-Alvarez Maria et al. The British journal of surgery 2022
Family history of malignant tumor is a predictor of gastric cancer prognosis: Incorporation into a nomogram. External Web Site Icon
Wang Fanke et al. Medicine 2022 101(35) e30141
Prevalence of thyroid nodules and thyroid cancer in individuals with a first-degree family history of non-medullary thyroid cancer: a cross-sectional study based on sonographic screening. External Web Site Icon
Grani Giorgio et al. Thyroid : official journal of the American Thyroid Association 2022
Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden. External Web Site Icon
Börjesson Erik et al. PloS one 2022 17(9) e0273567
Whole-exome sequencing study of familial nasopharyngeal carcinoma and its implication for identifying high-risk individuals. External Web Site Icon
Wang Tong-Min et al. Journal of the National Cancer Institute 2022
Familial hypercholesterolaemia and coronary risk factors among patients with angiogram-proven premature coronary artery disease in an Asian cohort. External Web Site Icon
Nazli Sukma Azureen et al. PloS one 2022 17(9) e0273896
Initial Longitudinal Outcomes of Risk-Stratified Men in Their Forties Screened for Prostate Cancer Following Implementation of a Baseline Prostate-Specific Antigen. External Web Site Icon
Michael Zoe D et al. The world journal of men's health 2022
Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes. External Web Site Icon
Comeaux Jacob G et al. Molecular genetics & genomic medicine 2022 e2031
A Risk Calculator to Predict Suicide Attempts Among Individuals with Early-Onset Bipolar Disorder. External Web Site Icon
Goldstein Tina R et al. Bipolar disorders 2022
A validation of models for prediction of pathogenic variants in mismatch repair genes. External Web Site Icon
Shyr Cathy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Estimating lifetime risk for breast cancer as a screening tool for identifying those who would benefit from additional services among women utilizing mobile mammography. External Web Site Icon
Wetmore John B et al. Journal of cancer policy 2022 100354
Familial colorectal cancer. External Web Site Icon
Mangas-Sanjuan Carolina et al. Best practice & research. Clinical gastroenterology 2022 58-59101798
Glaucoma Screening in Family Members of Glaucoma Patients at a Tertiary Eye Hospital in Eastern Region of Nepal. External Web Site Icon
Bhandari Ravi Dhar et al. Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH 2022 13(24) 128-136
Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices. External Web Site Icon
Lahiri Sayoni et al. Journal of genetic counseling 2022
Identifying Patients Who Meet Criteria for Genetic Testing of Hereditary Cancers Based on Structured and Unstructured Family Health History Data in the Electronic Health Record: Natural Language Processing Approach. External Web Site Icon
Shi Jianlin et al. JMIR medical informatics 2022 10(8) e37842
Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype. External Web Site Icon
Zang Fan et al. Breast cancer research and treatment 2022
Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment. External Web Site Icon
Yurgelun Matthew B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200120
Public Interest in Population Genetic Screening for Cancer Risk. External Web Site Icon
Roberts Megan C et al. Frontiers in genetics 2022 13886640
Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso. External Web Site Icon
Kiendrebeogo Isabelle T et al. Ethiopian journal of health sciences 2022 32(4) 699-708
The Frequency of V122I Transthyretin Mutation in a Cohort of African American Individuals With Bilateral Carpal Tunnel Syndrome. External Web Site Icon
Shije Jeffrey Z et al. Frontiers in neurology 2022 13949401
The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing. External Web Site Icon
Zhang Wen et al. Frontiers in pediatrics 2022 10911805
Predicting the Need for Biopsy to Detect Clinically Significant Prostate Cancer in Patients with a Magnetic Resonance Imaging-detected Prostate Imaging Reporting and Data System/Likert ≥3 Lesion: Development and Multinational External Validation of the Imperial Rapid Access to Prostate Imaging and Diagnosis Risk Score. External Web Site Icon
Peters Max et al. European urology 2022
Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort. External Web Site Icon
Padmanabhan Heamanthaa et al. Journal of genetic counseling 2022
A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of 'moderate risk' genetic results in a population breast cancer screening trial. External Web Site Icon
James Jennifer Elyse et al. Journal of genetic counseling 2022
An Electronic Health Record Tool Increases Genetic Counseling Referral of Individuals at Hereditary Cancer Risk: An Intervention Study. External Web Site Icon
Wurtmann Elisabeth J et al. Public health genomics 2022 1-7
Impact of comprehensive family history and genetic analysis in the multidisciplinary pancreatic tumor clinic setting. External Web Site Icon
Everett Jessica N et al. Cancer medicine 2022
Systematic evaluation of genetic mutations in ALS: a population-based study. External Web Site Icon
Grassano Maurizio et al. Journal of neurology, neurosurgery, and psychiatry 2022
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study. External Web Site Icon
Ossa Gomez Carlos Andrés et al. JCO global oncology 2022 8e2200104
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. External Web Site Icon
Kukafka Rita et al. JAMA network open 2022 5(7) e2222092
Screening for Individuals at Risk for Hereditary Breast and Ovarian Cancer: A Statewide Initiative, Georgia, 2012-2020. External Web Site Icon
Veitinger Julia K et al. American journal of public health 2022 e1-e4
Impact of Covid-19 Pandemic on the Effectiveness of Outpatient Counseling in Childhood Obesity Management. External Web Site Icon
Corica Domenico, et al. Frontiers in endocrinology 2022 0 0. 879440
Psychosocial markers of age at onset in bipolar disorder: a machine learning approach. External Web Site Icon
Bolton Sorcha et al. BJPsych open 2022 8(4) e133
Comprehensive characterisation of Lynch syndrome and screening strategies: a cohort study of individuals at risk from Latin American genetic registries. External Web Site Icon
Rossi Benedito Mauro et al. The Lancet. Oncology 2022 23 Suppl 1S34
Evaluating the Effect of Health Education Intervention on the Health Beliefs and Behaviors of First-Degree Female Relatives of Breast Cancer Patients. External Web Site Icon
Olgun Sule et al. South Asian journal of cancer 2022 11(1) 14-18
Genetic counseling for prion disease: Updates and best practices. External Web Site Icon
Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Hematological, Biochemical Properties, and Clinical Correlates of Hemoglobin S Variant Disorder: A New Insight Into Sickle Cell Trait. External Web Site Icon
Khaled Safaa A A et al. Journal of hematology 2022 11(3) 92-108
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer. External Web Site Icon
Jonnagadla Sowmya et al. Hereditary cancer in clinical practice 2022 20(1) 27
Screening recommendation adherence among first-degree relatives of individuals with colorectal cancer. External Web Site Icon
Fiala Mark A et al. Translational behavioral medicine 2022
Secondary Findings Using Broad Pan Cardiomyopathy and Arrhythmia Panels in Patients With a Personal or Family History of Inherited Cardiomyopathy or Arrhythmia Syndrome. External Web Site Icon
Smith Emily et al. The American journal of cardiology 2022
The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis. External Web Site Icon
Hsueh Hsueh-Wen et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2022
The Mount Sinai Prebiopsy Risk Calculator for Predicting any Prostate Cancer and Clinically Significant Prostate Cancer: Development of a Risk Predictive Tool and Validation with Advanced Neural Networking, Prostate Magnetic Resonance Imaging Outcome Database, and European Randomized Study of Screening for Prostate Cancer Risk Calculator. External Web Site Icon
Parekh Sneha et al. European urology open science 2022 4145-54
SARS-CoV-2 vaccine may trigger thyroid autoimmunity: real-life experience and review of the literature. External Web Site Icon
Ruggeri R M, et al. Journal of endocrinological investigation 2022 0 0.
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center. External Web Site Icon
King Charlie et al. Journal of genetic counseling 2022
Randomised trial of population based BRCA testing in Ashkenazi Jews: Long term secondary lifestyle behavioural outcomes. External Web Site Icon
Burnell Matthew et al. BJOG : an international journal of obstetrics and gynaecology 2022
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives. External Web Site Icon
Schmidlen Tara J et al. Frontiers in genetics 2022 13867226
Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations. External Web Site Icon
Geczik Ashley M et al. Breast cancer research and treatment 2022
Associations of a family history of lupus with the risks of lupus and major psychiatric disorders in first-degree relatives. External Web Site Icon
Lin Po-Chun et al. QJM : monthly journal of the Association of Physicians 2022
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer. External Web Site Icon
Lehrer Steven et al. Cancer treatment and research communications 2022 32100595
Familial associations in Adolescent Substance Use Disorder: A Population-based Cohort Study. External Web Site Icon
Hamad Amani F et al. Addiction (Abingdon, England) 2022
The Gastric Cancer Registry: A Genomic Translational Resource for Multidisciplinary Research in Gastric Cancer. External Web Site Icon
Almeda Alison F et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022
Understanding Cancer Genetic Risk Assessment Intentions in a Tailored Risk Communication Intervention Randomized Controlled Trial. External Web Site Icon
LeCompte C G et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 31(7) 1513-1514
Genetics education in primary care residency training: satisfaction and current barriers. External Web Site Icon
Falah Nadia et al. BMC primary care 2022 23(1) 156
Pilot study of a culturally sensitive intervention to promote genetic counseling for breast cancer risk. External Web Site Icon
Henderson Vida et al. BMC health services research 2022 22(1) 826
SARS-CoV-2 variants and the global pandemic challenged by vaccine uptake during the emergence of the Delta variant: A national survey seeking vaccine hesitancy causes. External Web Site Icon
AlJamaan Fadi, et al. Journal of infection and public health 2022 0 0. (7) 773-780
Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting. External Web Site Icon
Sharma Sonali et al. PloS one 2022 17(6) e0269605
Is there an increasing trend of risk-reducing prophylactic mastectomy procedure in preventing breast cancer among women? External Web Site Icon
Arslan Bilal et al. Turkish journal of surgery 2022 37(4) 347-354
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews. External Web Site Icon
Mittendorf Kathleen F et al. Hereditary cancer in clinical practice 2022 20(1) 22
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort. External Web Site Icon
Savatt Juliann M et al. BMC medicine 2022 20(1) 205
The role of common genetic variation in presumed monogenic epilepsies. External Web Site Icon
Campbell Ciarán et al. EBioMedicine 2022 81104098
Integrated analysis of direct and proxy genome wide association studies highlights polygenicity of Alzheimer's disease outside of the APOE region. External Web Site Icon
de la Fuente Javier et al. PLoS genetics 2022 18(6) e1010208
A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia. External Web Site Icon
Thajer Alexandra et al. Children (Basel, Switzerland) 2022 9(5)
Psychological outcomes in advanced cancer patients after receiving genomic tumor profiling results. External Web Site Icon
Vatter Sabina et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2022 41(6) 396-408
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. External Web Site Icon
Kurzlechner Leonie M et al. Journal of personalized medicine 2022 12(5)
Questionnaire-based exposome-wide association studies (ExWAS) reveal expected and novel risk factors associated with cardiovascular outcomes in the Personalized Environment and Genes Study. External Web Site Icon
Lee Eunice Y et al. Environmental research 2022 113463
Glaucoma - risk factors and current challenges in the diagnosis of a leading cause of visual impairment. External Web Site Icon
Lee Samantha Sze-Yee et al. Maturitas 2022 16315-22
Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines. External Web Site Icon
Yap Timothy A et al. JAMA network open 2022 5(5) e2213070
Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy. External Web Site Icon
Dettwyler Shenin A et al. Breast cancer research and treatment 2022
A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample. External Web Site Icon
Ashenhurst James R et al. Frontiers in genetics 2022 13871260
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources. External Web Site Icon
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Familial risk for bipolar I disorder is associated with erythrocyte omega-3 polyunsaturated fatty acid deficits in youth with attention-deficit hyperactivity disorder. External Web Site Icon
Mc Namara Robert K et al. Psychiatry research 2022 313114587
Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group. External Web Site Icon
Pederiva Cristina et al. Atherosclerosis 2022
Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention. External Web Site Icon
Moorthie Sowmiya et al. Preventive medicine 2022 107075
Accuracy of Perceived Breast Cancer Risk in Black and White Women with an Elevated Risk. External Web Site Icon
Young Jessica M L et al. Ethnicity & disease 2022 32(2) 81-90
Assessing Breast Cancer Risks to Improve Care for an Increased-Risk Population within Eastern North Carolina. External Web Site Icon
Shelton Charles H et al. North Carolina medical journal 2022 83(3) 221-228
Cost-effectiveness of using artificial intelligence versus polygenic risk score to guide breast cancer screening. External Web Site Icon
Mital Shweta et al. BMC cancer 2022 22(1) 501
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause. External Web Site Icon
Resdal Dyssekilde Johnni et al. Journal of the American Heart Association 2022 e025643
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome. External Web Site Icon
Smith Emily et al. Journal of the American Heart Association 2022 e024501
Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer. External Web Site Icon
Mukherjee Semanti et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022
Increased Number Of Colorectal Interval Cancers In Lynch Syndrome After The SARS-CoV-2 Pandemic. A Survey-based Study. External Web Site Icon
Russo Michele et al. Digestive diseases (Basel, Switzerland) 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification. External Web Site Icon
Ho Peh Joo et al. BMC medicine 2022 20(1) 150
Predicting Amyloid Positivity in Cognitively Unimpaired Older Adults: A Machine Learning Approach Using the A4 Data. External Web Site Icon
Petersen Kellen K et al. Neurology 2022
The clinical features and management of Lynch syndrome-associated ovarian cancer. External Web Site Icon
Ran Xuting et al. The journal of obstetrics and gynaecology research 2022
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. External Web Site Icon
Lu Tianyuan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
New-Onset Systemic Lupus Erythematosus after mRNA SARS-CoV-2 Vaccination. External Web Site Icon
Báez-Negrón Laisha, et al. Case reports in rheumatology 2022 0 0. 6436839
Exacerbation of Psoriasis Following COVID-19 Vaccination: Report From a Single Center. External Web Site Icon
Huang Yi-Wei, et al. Frontiers in medicine 2022 0 0. 812010
Capturing additional genetic risk from family history for improved polygenic risk prediction External Web Site Icon
T Lu et al, MEDRXIV, January 7, 2022
Case series: coronavirus disease 2019 infection as a precipitant of atypical hemolytic uremic syndrome: two case reports. External Web Site Icon
Kurian Christine J, et al. Journal of medical case reports 2021 0 0. (1) 587
Happy Thanksgiving 2021! Family Health History in the COVID-19 Era
RF Green et al, CDC Blog Post, November 16, 2021
Importance of Family History of Colorectal Cancer In Situ Versus Invasive Colorectal Cancer: A Nationwide Cohort Study. External Web Site Icon
Tian Yu et al. Journal of the National Comprehensive Cancer Network : JNCCN 2021 1-6
Mapping Users' Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care. External Web Site Icon
Miroševic Špela et al. Public health genomics 2021 1-10
Integrated multi-omics approach identified molecular mechanism and pathogenetic processes of COVID-19 that affect patient with Parkinson's disorder. External Web Site Icon
Zhao Hongxia, et al. Saudi journal of biological sciences 2021 0 0.
SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy. External Web Site Icon
Dumitru Irina Magdalena, et al. Genes 2021 0 0. (7)
Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus. External Web Site Icon
Hussain Taimoor, et al. Cureus 2021 0 0. (6) e15992
Resources in Genomics and Precision Health to Enhance Public Health Impact of New Technologies
CDC slide set, 2021
Epidemiology of lung cancer. External Web Site Icon
Thandra Krishna Chaitanya, et al. Contemporary oncology (Poznan, Poland) 2021 0 0. (1) 45-52
Clinical implementation of an oncology-specific family health history risk assessment tool. External Web Site Icon
Fung Si Ming et al. Hereditary cancer in clinical practice 2021 19(1) 20
Autism Spectrum Disorder, Family Health History, and Genetics
CDC, March 2021
The Value of Family History in Colorectal Screening Decisions for Oldest Old Geriatric Populations. External Web Site Icon
Miller David R et al. Cureus 2021 13(1) e12815
Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study. External Web Site Icon
Mukama Trasias et al. Cancer 2021
Covid-19 pathogenesis in prostatic cancer and TMPRSS2-ERG regulatory genetic pathway. External Web Site Icon
Afshari Afsoon, et al. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2020 0 0. 104669
A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial. External Web Site Icon
Bosaeed Mohammad, et al. Trials 2020 10 0. (1) 904
The role of MEFV gene in COVID 19 disease, as a protective factor External Web Site Icon
Salehzadeh, Farhad et al. Research Square November 05 2020
The enduring importance of family health history in the era of genomic medicine and risk assessment. External Web Site Icon
Haga Susanne B et al. Personalized medicine 2020 Apr
New study highlights importance of family history-based screening for colorectal cancer External Web Site Icon
H Zia, Stat News, April 20, 2020
Guidance on Minimizing Risk of Drug-Induced Ventricular Arrhythmia During Treatment of COVID-19: A Statement from the Canadian Heart Rhythm Society. External Web Site Icon
Sapp John L, et al. The Canadian journal of cardiology 2020 4 0.
Is family history of coronary artery disease important in the emergency department triage? External Web Site Icon
Mor Saban et al. International emergency nursing 2020 Mar 100855
Evaluation of family health history collection methods impact on data and risk assessment outcomes. External Web Site Icon
Wu R Ryanne et al. Preventive medicine reports 2020 Jun 18101072
Head-to-Head Comparison of Family History of Colorectal Cancer and a Genetic Risk Score for Colorectal Cancer Risk Stratification. External Web Site Icon
Weigl Korbinian et al. Clinical and translational gastroenterology 2019 Nov
What Your Family History Can’t Tell You External Web Site Icon
NHGRI, youtube video, November 2019
Increased schizophrenia family history burden and reduced premorbid IQ in treatment-resistant schizophrenia: a Swedish National Register and Genomic Study External Web Site Icon
K Kowalek et al, Molecular Psychiatry, November 12, 2019
Family history and polygenic risk of cardiovascular disease: independent factors associated with secondary cardiovascular manifestations in patients undergoing carotid endarterectomy External Web Site Icon
N Timmerman et al, MedRXIV, September 18, 2019
Examining the Importance of Family History in Pediatric Behavioural Referrals. External Web Site Icon
Gander Sarah et al. Cureus 2019 May 11(5) e4790
The Importance of Family History in the Management of Endocrine Disease. External Web Site Icon
Grogan Raymon H et al. The Surgical clinics of North America 2019 Aug 99(4) 711-720
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non- BRCA1/2 breast cancer families. External Web Site Icon
Lakeman Inge M M et al. Journal of medical genetics 2019 Jun
'Out of the Blue' Diagnosis Linked to a Family History of Cancer Now Empowers Others External Web Site Icon
S Friedman, Cure, June 12, 2019
Family History-Wide Association Study ("FamWAS") for Identifying Clinical and Environmental Risk Factors for Common Chronic Diseases. External Web Site Icon
Rasooly Danielle et al. American journal of epidemiology 2019 Jun
Cancer and Women: Learn your family history of cancer and what you can do to lower your cancer risk
CDC Cancer, May 2019
Finding Out You Have a Genetic Mutation May Not Be as Bad as You Think- Scientists are learning they greatly overestimated chances of developing deadly cancers in patients with no family history of disease External Web Site Icon
M Cortez, Bloomberg News, May 9, 2019
Factors Influencing Not Perceiving Family Health History Assessments as Important: Opportunities to Improve Dissemination of Evidence-Based Population Screening for Cancer External Web Site Icon
CG Allen et al, Public Health Genomics, May 2019
Researchers build a statistical model using family health history to improve disease risk assessment External Web Site Icon
P Ganguly, NHGRI, May 1, 2019
Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients. External Web Site Icon
Singer Christian F et al. Cancer medicine 2019 Mar
Breast cancer study confirms importance of multigenerational family data to assess risk External Web Site Icon
Eureka Alert, Columbia University, School of Public helath, February 21, 2019
Unraveling breast cancer risk- Only about 10 percent of people with breast cancer have links to known gene variants, but another 20 percent have significant family history. Scientists are delving deeper into the genome to find what remains unexplained. External Web Site Icon
A Knutsen, Knowable Magazine, February 14, 2019
Population-based Relative Risks for Specific Family History Constellations of Breast Cancer External Web Site Icon
FS Albright et al, BioRXIV, January 2019
New Year, New Healthy You
9 tips to boost your health and well-being all year long include knowing your family health history. December 2018
Family history of venous thromboembolism in the paediatric population: The need for a standardized definition. External Web Site Icon
Hau Anna et al. Thrombosis research 2018 Nov 17391-95
The value of genetic testing for family health history of adopted persons. External Web Site Icon
May Thomas et al. Nature reviews. Genetics 2018 Nov
Happy Thanksgiving 2018: Update and Act on Your Family Health History!
MJ Khoury, CDC Blog Post, November 19, 2018
Adoptees lacking family health history look to whole genome sequencing for answers External Web Site Icon
M Thomas, Hudson Alpha, October 2018
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. External Web Site Icon
Hart M Ragan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
Association Between Family History and Early-Onset Atrial Fibrillation Across Racial and Ethnic Groups External Web Site Icon
Z Alzaharani et al, JAMA Network Open, September 21, 2018
Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity. External Web Site Icon
Casas Kari A et al. Narrative inquiry in bioethics 2018 8(2) 131-135
When Cancer Runs in the Family.
T Fairley, CDC Blog Post, April 23, 2019

More


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

TOP