Published on 06/16/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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The role of common genetic variation in presumed monogenic epilepsies.
Campbell Ciarán et al. EBioMedicine 2022 81104098
Cancer Genomics
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Economic Analysis of Tissue-First, Plasma-First, and Complementary NGS Approaches for Treatment-Naïve Metastatic Lung Adenocarcinoma.
Yang Szu-Chun et al. Frontiers in oncology 2022 12873111 -
Diagnostic Value and Cost-effectiveness of Next Generation Sequencing-based Testing for Treatment of Patients with Advanced/Metastatic Non-squamous Non-small Cell Lung Cancer in the US.
Zou Denise et al. The Journal of molecular diagnostics : JMD 2022 -
Clinical Testing for Tumor Cell-Free DNA.
Devereaux Kelly A et al. Archives of pathology & laboratory medicine 2022 -
Continual Improvement of the Reliability of Next-Generation Sequencing-Based ctDNA Analysis: A Long-Term Comparison of ctDNA Detection in China.
Peng Rongxue et al. Clinical chemistry 2022 -
Biomarker Testing for Patients With Advanced/Metastatic Nonsquamous NSCLC in the United States of America, 2015 to 2021.
Hess Lisa M et al. JTO clinical and research reports 2022 3(6) 100336 -
Real-World Data on Liquid Biopsy Use in Non-Small Cell Lung Cancer in the Community Setting.
Dvir Kathrin et al. Journal of immunotherapy and precision oncology 2022 4(1) 1-5 -
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.
Correia Lizelle et al. NPJ breast cancer 2022 8(1) 71
Hereditary Cancer
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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt Juliann M et al. BMC medicine 2022 20(1) 205 -
Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
Giri Veda N et al. JCO precision oncology 2022 6e2200234 -
Is there an increasing trend of risk-reducing prophylactic mastectomy procedure in preventing breast cancer among women?
Arslan Bilal et al. Turkish journal of surgery 2022 37(4) 347-354 -
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen Edwin S et al. NPJ genomic medicine 2022 7(1) 35 -
Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system.
Knerr Sarah et al. Cancer 2022 -
Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer.
Rosa Juan et al. Studies in health technology and informatics 2022 290340-344
Chronic Disease
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Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence from Human Genetics.
Lu Tianyuan et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022 -
Evidence Threshold for a Precision Medicine Test that Predicts Optimal Response to a Biologic Agent in Patients With Psoriasis: A Consensus Panel.
Strober Bruce et al. Journal of drugs in dermatology : JDD 2022 21(6) 630-636 -
Schizophrenia Polygenic Risk and Experiences of Childhood Adversity: A Systematic Review and Meta-analysis.
Woolway Grace E et al. Schizophrenia bulletin 2022
Ethics/Policy/Law
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Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
Appelbaum Paul S et al. American journal of human genetics 2022 109(6) 981-988 -
Challenges and potential solutions to health disparities in genomic medicine.
Lee Sandra Soo-Jin et al. Cell 2022 185(12) 2007-2010 -
Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies.
Onstwedder Suzanne M et al. Frontiers in genetics 2022 13865799 -
Governance of Heritable Human Gene Editing World-Wide and Beyond.
Xue Yang et al. International journal of environmental research and public health 2022 19(11)
Practice
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Healthcare Predictors of Information Dissemination About Genetic Risks.
Henderson Vida et al. Cancer control : journal of the Moffitt Cancer Center 2022 2910732748221104666 -
Transferability of genetic risk scores in African populations.
Kamiza Abram B et al. Nature medicine 2022 -
Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys.
Furtado Larissa V et al. Archives of pathology & laboratory medicine 2022 -
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews.
Mittendorf Kathleen F et al. Hereditary cancer in clinical practice 2022 20(1) 22 -
Accounting for Intergenerational Cascade Testing in Economic Evaluations of Clinical Genomics: A Scoping Review.
Zischke Jason et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022 25(6) 944-953
Heart, Lung, Blood and Sleep Diseases
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Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.
Peet Claire J et al. Journal of the American Heart Association 2022 e024931 -
The value of genetic testing in the diagnosis and risk stratification of arrhythmogenic right ventricular cardiomyopathy.
de Brouwer Remco et al. Heart rhythm 2022 -
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Jiang Connie et al. American journal of human genetics 2022 -
Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting.
Sharma Sonali et al. PloS one 2022 17(6) e0269605 -
Incidence rates of dilated cardiomyopathy in adult first-degree relatives versus matched controls.
Andersson Charlotte et al. International journal of cardiology. Heart & vasculature 2022 41101065 -
Optical absorbance-based rapid test for the detection of sickle cell trait and sickle cell disease at the point-of-care.
Srinivasan Rajesh et al. Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy 2022 279121394
Newborn Screening
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Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes.
Olety Priyanka et al. BMJ case reports 2022 15(6) -
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
Dangouloff Tamara et al. Developmental medicine and child neurology 2022
Pharmacogenomics
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Pharmacogenomics: a tool to improve medication safety and efficacy in patients with cystic fibrosis.
Sakon Colleen M et al. Pharmacogenomics 2022 -
Pharmacogenetic Review: Germline Genetic Variants Possessing Increased Cancer Risk With Clinically Actionable Therapeutic Relationships.
Saugstad Austin A et al. Frontiers in genetics 2022 13857120 -
Cost-effectiveness of DPYD Genotyping Prior to Fluoropyrimidine-based Adjuvant Chemotherapy for Colon Cancer.
Brooks Gabriel A et al. Clinical colorectal cancer 2022 -
Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries.
Blagec Kathrin et al. PloS one 2022 17(6) e0268534 -
Design and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension.
Eadon Michael T et al. Contemporary clinical trials 2022 119106813
Reproductive Health
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
van Prooyen Schuurman Lisanne et al. American journal of human genetics 2022 109(6) 1140-1152 -
"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research.
Brown Julia E H et al. Frontiers in genetics 2022 13882703 -
Latinx individuals' knowledge of, preferences for, and experiences with prenatal genetic testing: a scoping review.
Grafft Natalie et al. Reproductive health 2022 19(1) 134 -
Evaluating Expanded Noninvasive Prenatal Screening.
Bayefsky Michelle J et al. Obstetrics and gynecology 2022 139(6) 1009-1011 -
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
Schmidtke Jörg et al. Journal of community genetics 2022