Published on 04/25/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Stigma associated with genetic testing for rare diseases-causes and recommendations.
Gareth Baynam et al. Front Genet 2024 151335768
Cancer Genomics
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Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.
Isabelle Bedrosian et al. J Clin Oncol 2024 42(5) 584-604 -
Correlation between NGS panel-based mutation results and clinical information in colorectal cancer patients.
Bo Cheng et al. Heliyon 2024 10(7) e29299
Hereditary Cancer
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Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Sara Torres-Esquius et al. JAMA Netw Open 2024 7(4) e247811 -
Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.
Fernanda Mesa-Chavez et al. JCO Glob Oncol 2024 10e2300417 -
Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants.
Zhenzhen Zhang et al. JAMA Netw Open 2024 7(4) e247421 -
Assessing the value of incorporating a polygenic risk score with non-genetic factors for predicting breast cancer diagnosis in the UK Biobank.
Jennifer A Collister et al. Cancer Epidemiol Biomarkers Prev 2024 -
Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention.
Shayan M Dioun et al. Am J Obstet Gynecol 2024 -
A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.
Jin Ju Kim et al. Clin Lab 2024 70(4)
Ethics/Policy/Law
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Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.
Riccardo Oliva et al. Int J Gynecol Cancer 2024 -
Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes.
Tsung-Ling Lee et al. Front Genet 2024 151381172 -
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Cassandra Muller et al. Eur J Hum Genet 2024
Heart, Lung, Blood and Sleep Diseases
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Enhanced identification of familial hypercholesterolemia using central laboratory algorithms.
Shirin Ibrahim et al. Atherosclerosis 2024 393117548 -
Modification of coronary artery disease clinical risk factors by coronary artery disease polygenic risk score.
Buu Truong et al. Med 2024 -
Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study.
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39 -
Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria.
Martine Paquette et al. J Clin Endocrinol Metab 2024
Newborn Screening
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EXPANDED NEWBORN SCREENING FOR INBORN ERRORS OF IMMUNITY: THE EXPERIENCE OF TUSCANY.
Silvia Ricci et al. J Allergy Clin Immunol Pract 2024
Reproductive Health
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Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.
Jia Huang et al. Front Med (Lausanne) 2024 111376319 -
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
Erica Soster et al. Mol Cytogenet 2024 17(1) 9