Published on 04/14/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.
Lavelle Tara A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
Rego Shannon et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam Mohammad Khursheed et al. Scientific reports 2022 12(1) 5708 -
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia Nasim et al. Kidney360 2022 2(1) 90-104 -
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb Neal J et al. Molecular genetics and metabolism 2022
Cancer Genomics
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Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common.
Newfield Ron S et al. International journal of pediatric otorhinolaryngology 2022 157111121 -
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
Li Na et al. Journal of medical genetics 2022 -
Deciphering the Increased Prevalence of TP53 Mutations in Metastatic Prostate Cancer.
Zhang Wensheng et al. Cancer informatics 2022 2111769351221087046 -
Economic Analysis of Exclusionary EGFR Test Versus Up-Front NGS for Lung Adenocarcinoma in High EGFR Mutation Prevalence Areas.
Yang Szu-Chun et al. Journal of the National Comprehensive Cancer Network : JNCCN 2022 1-9 -
"Game Changer": Health Professionals' Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management.
Shickh Salma et al. The oncologist 2022 -
Targeted RNA sequencing for upfront analysis of actionable driver alterations in non-small cell lung cancer.
Claerhout Sofie et al. Lung cancer (Amsterdam, Netherlands) 2022 166242-249 -
A Practical Overview of the Stool DNA Test for Colorectal Cancer Screening.
Anand Sanya et al. Clinical and translational gastroenterology 2022 -
Genomic sequencing in oncology: Considerations for integration in routine cancer care.
Rahman Belinda et al. European journal of cancer care 2022 e13584 -
Understanding Racial and Ethnic Inequities in Uptake and Outcomes Following Multigene Prognostic Testing in Early Breast Cancer: The Promise of Real-World Data.
Wang Xiaoliang 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(4) 704-706 -
circ_0000567/miR-421/TMEM100 Axis Promotes the Migration and Invasion of Lung Adenocarcinoma and Is Associated with Prognosis.
Hong Yang et al. Journal of Cancer 2022 13(5) 1540-1552 -
Clinical utility of a regional precision medicine molecular tumor board and challenges to implementation.
Peh Keng Hee et al. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2022 10781552221091282
Hereditary Cancer
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Genetic Evaluation for Hereditary Cancer Syndromes Among African Americans: A Critical Review.
Khan Ambreen et al. The oncologist 2022 27(4) 285-291 -
Prostate cancer polygenic risk score and prediction of lethal prostate cancer.
Klein Robert J et al. NPJ precision oncology 2022 6(1) 25 -
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Grafodatskaya Daria et al. Journal of medical genetics 2022 -
Interventions to improve delivery of cancer genetics services in the United States: A scoping review.
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Rate of breast biopsy referrals in female BRCA mutation carriers aged 50 years or more: a retrospective comparative study and matched analysis.
Pomerantz Adi et al. Breast cancer research and treatment 2022 -
Association of Family History of Cancer with Clinical and Pathological Outcomes for Prostate Cancer Patients on Active Surveillance.
Jibara Ghalib A et al. The Journal of urology 2022 101097JU0000000000002668 -
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Guan Bao et al. Frontiers in oncology 2022 12774202 -
Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
Sandoval Renata Lazari et al. Frontiers in oncology 2022 12836937
Chronic Disease
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Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.
Kaivola Karri et al. Brain : a journal of neurology 2022 -
Predictive genetic testing for Motor neuron disease: time for a guideline?
McNeill Alisdair et al. European journal of human genetics : EJHG 2022 -
Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis.
Huang Jingxuan et al. Translational neurodegeneration 2022 11(1) 21 -
Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease.
Stevenson-Hoare Joshua et al. Brain : a journal of neurology 2022 -
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson Parker C et al. Kidney360 2022 1(8) 772-780 -
From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.
Lundquist Andrew L et al. Kidney360 2022 1(10) 1099-1106 -
The Role of Racial and Ethnic Factors in MicroRNA Expression and Risk for Type 2 Diabetes.
Flowers Elena et al. Frontiers in genetics 2022 13853633
Ethics/Policy/Law
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Moving from 'fully' to 'appropriately' informed consent in genomics: The PROMICE framework.
Koplin Julian J et al. Bioethics 2022 -
Prevalence and prediction of medical distrust in a diverse medical genomic research sample.
Angelo Frank et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Practice
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Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.
Suckiel Sabrina A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a "virtual patient".
Vears Danya F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Examining the role of language competency in genetic testing awareness among adults in the United States.
Passero Lauren et al. Journal of genetic counseling 2022 -
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse Christina A et al. NPJ genomic medicine 2022 7(1) 27 -
Limited Genomics Training Among Physicians Remains a Barrier to Genomics-Based Implementation of Precision Medicine.
Schaibley Valerie M et al. Frontiers in medicine 2022 9757212 -
Rapid Exome and Genome Sequencing in the Intensive Care Unit.
Muriello Michael et al. Critical care clinics 2022 38(2) 173-184
Heart, Lung, Blood and Sleep Diseases
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Latest clinical evidence about the effect of PCSK9 monoclonal antibodies in patients with familial hypercholesterolaemia: an updated meta-analysis.
Zhang Qiongfang et al. Endokrynologia Polska 2022 73(1) 110-120 -
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.
Christian Susan et al. Open heart 2022 9(1) -
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde Arthur A M et al. Heart rhythm 2022 -
Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
Nauffal Victor et al. Circulation 2022 -
Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences?
Jacob Erin et al. Current atherosclerosis reports 2022 -
Haemophilia gene therapy: experiences and lessons from treated patients.
Hermans Cedric et al. Orphanet journal of rare diseases 2022 17(1) 154 -
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study.
Fletcher Simon et al. Orphanet journal of rare diseases 2022 17(1) 155 -
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.
Abbasciano Riccardo Giuseppe et al. Journal of the American Heart Association 2022 e023741 -
Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.
Cecchi Alana C et al. Journal of the American Heart Association 2022 e025441
Pharmacogenomics
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Frequency and clinical relevance of DPYD genetic variants in gastrointestinal cancer patients.
Riera Pau et al. Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria 2022 45(7) 5-10 -
Roles of C-reactive protein polymorphisms and life event changes on cognitive function in bipolar patients receiving valproate.
Chen Po See et al. International journal of immunopathology and pharmacology 2022 363946320221084835
Reproductive Health
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Diagnostic yield using whole-genome sequencing and in-silico gene panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.
Westenius E et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022 -
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
Mellis Rhiannon et al. Prenatal diagnosis 2022 -
Genetic counseling decisions in gestational carrier pregnancies.
Rasouli Melody A et al. Journal of assisted reproduction and genetics 2022