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)
Susceptibility to Treatment-Resistant Depression Within Families.
Chih-Ming Cheng et al. JAMA Psychiatry 2024 4 (Posted Apr 05, 2024 9AM)
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)
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)
Ariane J A G Van Tongerloo et al. J Genet Couns 2024
Clinical features of prostate cancer by polygenic risk score.
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.
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.
Christoph Altmann et al. Clin Res Cardiol 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Emil K Gustavsson et al. Lancet Neurol 2024
The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges.
Siddharth Bhargava et al. J Glaucoma 2024
BRCA awareness and testing experience in the UK Jewish population: a qualitative study.
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.
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.
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.
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?
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.
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.
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.
Emily M Webster et al. Gynecol Oncol 2024 1831-6
Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.
Xin Wang et al. Clin Genitourin Cancer 2024 102052
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality.
Victoria Dortenzio et al. J Community Genet 2024
The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
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.
Mady Head et al. Womens Health Issues 2024
Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.
Joshua J Nolan et al. Genet Med 2024 101103
Lipoprotein(a) testing in lipid clinics across the UK: Results of a national survey.
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).
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.
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.
Antoine Paul et al. Int J Neonatal Screen 2024 10(1)
Genetic Testing in Hypertrophic Cardiomyopathy.
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.
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.
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.
Nam H Nguyen et al. JCO Clin Cancer Inform 2024 8e2300167
Genetic testing for familial hypercholesterolemia.
Yiyi Zhang et al. Curr Opin Lipidol 2024
Comparison of Two Strategies for Hypercholesterolemia Detection through Point-of-Care Testing.
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.
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.
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).
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.
Mincheol Park et al. Neurol Genet 2024 10(1) e200115
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
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.
Marian J Gilmore et al. Transl Behav Med 2024
Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome.
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.
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.
Joshua Nolan et al. Genet Med 2023 101051
Personalized medicine in a community health system: the NorthShore experience.
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.
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.
Shuji Mitsuhashi et al. J Clin Gastroenterol 2023
Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.
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.
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.
Anja Tüchler et al. Breast 2023 73103615
Family history, socioeconomic factors, comorbidities, health behaviors, and the risk of sudden cardiac arrest.
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).
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.
Azizi Seixas et al. Int J Environ Res Public Health 2023 20(23)
Unawareness of breast cancer family history among African women.
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.
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.
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.
Neeta L Vora et al. Prenat Diagn 2023
Rate of Pathogenic Germline Variants in Patients With Lung Cancer.
Steven Sorscher et al. JCO Precis Oncol 2023 7e2300190
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.
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.
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.
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.
Baylee Roy et al. Pediatr Blood Cancer 2023 e30725
Family History and Risk of Renal Cell Carcinoma: A National Multi-Register Case-Control Study.
Rasmus G Jakobsson et al. J Urol 2023 101097JU0000000000003765
Knowledge, Attitude, and Practice About the Process of Genetic Counselling Among Clinicians.
Jyoti P Kulkarni et al. Cureus 2023 15(9) e45883
Management of Women at High Risk for Breast Cancer.
Lashika Yogendran et al. J Am Board Fam Med 2023
Province-Wide Ascertainment of Lynch Syndrome in Manitoba.
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.
Sau Mak et al. Clin Transl Gastroenterol 2023
Genetic and Nongenetic Components of Stroke Family History: A Population Study of Adopted and Nonadopted Individuals.
Ernst Mayerhofer et al. J Am Heart Assoc 2023 12(20) e031566
How and Why to Organize Family-Based Screening Clinics for Hypertrophic Cardiomyopathy.
Bryana J Rivers et al. Can J Cardiol 2023
Prediction of clinically significant prostate cancer through urine metabolomic signatures: A large-scale validated study.
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.
Rachel B Issaka et al. Gastroenterology 2023
Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.
Chelsea Chambers et al. Neurol Clin Pract 2023 13(5) e200201
Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing.
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.
Ravi Mandla et al. medRxiv 2023
Premature atherosclerosis: An analysis over 39 years in the Netherlands. Implications for young individuals in high-risk families.
Juliette Crooijmans et al. Atherosclerosis 2023 117267
Do physicians know when to refer patients for genetic testing?
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.
Mehdi Amini et al. Sci Rep 2023 13(1) 14920
Does the amount of family history matter? Perspectives of adult adoptees.
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.
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.
Nicole Marjon et al. Gynecol Oncol 2023 17753-59
An Interpretable Longitudinal Preeclampsia Risk Prediction Using Machine Learning.
Braden W Eberhard et al. medRxiv 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Melanie Zheng et al. EBioMedicine 2023 95104747
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome.
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.
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.
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.
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.
Leah Marsh et al. Obstet Gynecol 2023
Risk Factors for Developing Both Primary Breast and Primary Ovarian Cancer: A Systematic Review.
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.
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.
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).
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.
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.
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.
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.
Diana S Hsu et al. Ann Surg Oncol 2023
Inappropriate Multi-Target Stool DNA Use for Colorectal Cancer Screening: Risks, Compliance, and Outcomes.
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.
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.
Li Lin et al. PLoS One 2023 18(6) e0287629
The Role of Hyposthenuria in Enuresis Among Paediatric Patients With Sickle Cell Disease.
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.
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.
Monica S Thakar et al. Lancet 2023
Molecular testing of endometrial carcinoma in real-world clinical practice.
M Bednaríková et al. Klin Onkol 2023 36(3) 215-223
Prevalence of hypercholesterolaemia in outpatient children aged 9-11 years.
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.
Deepansh Dalela et al. Urol Pract 2023 101097UPJ0000000000000419
Adherence to Risk-Reducing Salpingo-Oophorectomy Guidelines Among Gynecologic Oncologists Compared to General Gynecologists.
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.
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.
Peh Joo Ho et al. Genet Med 2023 100917
Current chemoprevention approaches in Lynch syndrome and Familial adenomatous polyposis: a global clinical practice survey.
Kathryn A Mraz et al. Front Oncol 2023 131141810
Importance of GWAS risk loci and clinical data in predicting asthma using machine-learning approaches.
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.
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.
Sylvia Arce et al. Cureus 2023 15(5) e38770
Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members.
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.
Nanna Bæk Møller et al. Sci Rep 2023 13(1) 8536
[Association between clinical phenotypes of hypertrophic cardiomyopathy and Ca gene variation gene variation].
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.
Michal Vrablík et al. PLoS One 2023 18(5) e0272883
Advantages of routine next generation sequencing over standard genetic testing in the ALS clinic.
Jakub Scaber et al. Eur J Neurol 2023
Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome.
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.
Jeremy C Jones et al. Cureus 2023 15(4) e37428
BRCA1/2 testing rates in epithelial ovarian cancer: a focus on the untested patients.
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.
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.
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.
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.
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.
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.
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.
Annie T Chen et al. JMIR Cancer 9e43126
Patients with deleterious germline mutations: A heterogeneous population for pancreatic cancer screening?
Alexandra M Roch et al. J Surg Oncol
Risk Factors for Early Onset Sporadic Colorectal Cancer in Male Veterans.
Thomas F Imperiale et al. Cancer Prev Res (Phila)
Primary Care Physicians' Perspectives on Identifying Familial Hypercholesterolaemia in Primary Care: A Qualitative Study.
Hasidah Abdul-Hamid et al. Ann Fam Med 2023 (21 Suppl 1)
Thrombophilia Testing - a Systematic Review.
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.
G Grani et al. J Endocrinol Invest 2023
Web-based tool for cancer family history collection: A prospective randomized controlled trial.
Melissa K Frey et al. Gynecol Oncol 2023 17322-30
A population-wide analysis of the familial risk of suicide in Utah, USA.
Amanda V Bakian et al. Psychological medicine 2023 53(4) 1448-1457
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
Maximilian Wiesenfarth et al. Brain communications 2023 5(2) fcad087
Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease.
Amanda Jowell et al. European journal of preventive cardiology 2023
Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma.
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.
Sophie Adams et al. Prenatal diagnosis 2023
Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.
Kelsey E Breen et al. The Journal of urology 2023 101097JU0000000000003186
Genetic Risk Scores and Missing Heritability in Ovarian Cancer.
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.
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.
Arianna Dal Buono et al. Cancers 2023 15(6)
Clinical exome sequencing findings in 1589 patients.
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.
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.
Shailavi Jain et al. Clinical and translational gastroenterology 2023
Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not".
Melodie Tedross et al. Journal of genetic counseling 2023
Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment.
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.
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.
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.
Johanna M Seddon et al. Ophthalmology science 2023 3(2) 100265
Are population level familial risks and germline genetics meeting each other?
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.
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.
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.
Patricia Mazzonetto et al. Breast cancer research and treatment 2023
Characterization of Chronic Urticaria and Associated Conditions - A Web-Based Survey.
Weronika Zysk et al. Dermatology practical & conceptual 2023 13(1)
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
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.
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.
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.
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?
Thomas May et al. Family practice 2023
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer.
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.
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.
Deonna M Ackermann et al. JAMA dermatology 2023
Validation of an abridged breast cancer risk prediction model for the general population.
Erika L Spaeth et al. Cancer prevention research (Philadelphia, Pa.) 2023
Combining Breast Cancer Risk Prediction Models.
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).
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.
Derk C F Klatte et al. Preventive medicine reports 2023 31102110
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Yasuo Suzuki et al. Genes 2023 14(2)
Polygenic Risk of Prediabetes, Undiagnosed Diabetes, and Incident Type 2 Diabetes Stratified by Diabetes Risk Factors.
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.
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.
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.
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.
Emanuele Monda et al. Diagnostics (Basel, Switzerland) 2023 13(4)
Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.
Andrea Aparicio et al. Journal of clinical medicine 2023 12(3)
Germline pathogenic variants in 786 neuroblastoma patients.
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.
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.
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.
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.
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.
Francesca Tavano et al. Molecular medicine (Cambridge, Mass.) 2023 29(1) 14
Phenotypes of Overdiagnosed Long QT Syndrome.
Sahej Bains et al. Journal of the American College of Cardiology 2023 81(5) 477-486
A Focused Clinical Review of Lynch Syndrome.
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A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample.
Ashenhurst James R et al. Frontiers in genetics 2022 13871260
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
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.
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.
Pederiva Cristina et al. Atherosclerosis 2022
Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention.
Moorthie Sowmiya et al. Preventive medicine 2022 107075
Accuracy of Perceived Breast Cancer Risk in Black and White Women with an Elevated Risk.
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.
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.
Mital Shweta et al. BMC cancer 2022 22(1) 501
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
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.
Smith Emily et al. Journal of the American Heart Association 2022 e024501
Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
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.
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.
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.
Petersen Kellen K et al. Neurology 2022
The clinical features and management of Lynch syndrome-associated ovarian cancer.
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.
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.
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.
Huang Yi-Wei, et al. Frontiers in medicine 2022 0 0. 812010
Capturing additional genetic risk from family history for improved polygenic risk prediction
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.
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.
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.
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.
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.
Dumitru Irina Magdalena, et al. Genes 2021 0 0. (7)
Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus.
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.
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.
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.
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.
Mukama Trasias et al. Cancer 2021
Covid-19 pathogenesis in prostatic cancer and TMPRSS2-ERG regulatory genetic pathway.
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.
Bosaeed Mohammad, et al. Trials 2020 10 0. (1) 904
The role of MEFV gene in COVID 19 disease, as a protective factor
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.
Haga Susanne B et al. Personalized medicine 2020 Apr
New study highlights importance of family history-based screening for colorectal cancer
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.
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?
Mor Saban et al. International emergency nursing 2020 Mar 100855
Evaluation of family health history collection methods impact on data and risk assessment outcomes.
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.
Weigl Korbinian et al. Clinical and translational gastroenterology 2019 Nov
What Your Family History Can’t Tell You
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
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
N Timmerman et al, MedRXIV, September 18, 2019
Examining the Importance of Family History in Pediatric Behavioural Referrals.
Gander Sarah et al. Cureus 2019 May 11(5) e4790
The Importance of Family History in the Management of Endocrine Disease.
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.
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
S Friedman, Cure, June 12, 2019
Family History-Wide Association Study ("FamWAS") for Identifying Clinical and Environmental Risk Factors for Common Chronic Diseases.
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
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
CG Allen et al, Public Health Genomics, May 2019
Researchers build a statistical model using family health history to improve disease risk assessment
P Ganguly, NHGRI, May 1, 2019
Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
Singer Christian F et al. Cancer medicine 2019 Mar
Breast cancer study confirms importance of multigenerational family data to assess risk
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.
A Knutsen, Knowable Magazine, February 14, 2019
Population-based Relative Risks for Specific Family History Constellations of Breast Cancer
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.
Hau Anna et al. Thrombosis research 2018 Nov 17391-95
The value of genetic testing for family health history of adopted persons.
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
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.
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
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.
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
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About Family Health History PHGKB
Family Health History PHGKB is an online, continuously updated, searchable database of information and publications relevant to the role of family health history in healthcare and disease prevention....more
Content Summary
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.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 18, 2024
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