Human Genomics across the Lifespan

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: Mar 5, 2020

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
  Husson Thomas et al. Translational psychiatry 2020 Feb 10(1) 77
• Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
  Berisha Stela Z et al. Birth defects research 2020 Mar 112(4) 293-306
• Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.
  An Jian et al. Chaos (Woodbury, N.Y.) 2020 Feb 30(2) 023116
• Is it the right time for an infant screening for Duchenne muscular dystrophy?
  Vita Gian Luca et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 Feb
• Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.
  Yusuf Afiqah et al. Research in developmental disabilities 2020 Feb 100103605
• Genetics of ADHD: What Should the Clinician Know?
  Grimm Oliver et al. Current psychiatry reports 2020 Feb 22(4) 18
• Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
  Aldosary Mazhor et al. Omics : a journal of integrative biology 2020 Feb
• A Breakthrough in Genetic Medicine for Rare Disease,
  by Lydia Denworth, Scientific American, March 2020

Cancer

• NCCN Updates to Hereditary Cancer Genetic Testing Criteria Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic
  Michigan Cancer Consortium Newsletter, February 2020
• When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals' views regarding disclosure of BRCA genetic cancer risk.
  Young Alison Luk et al. BMJ open 2020 Feb 10(2) e033127
• Emerging Opportunity of Cascade Genetic Testing for Population-Wide Cancer Prevention and Control.
  Kurian Allison W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO2000140
• Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
  Alvarado Mónica et al. Journal of community genetics 2020 Feb
• Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention.
  Ghezelayagh Talayeh S et al. Familial cancer 2020 Feb
• Hereditary cancer syndromes: Are your patients at risk?
  Self-paced course, the Jackson Laboratory
• Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.
  Hynes Jaclyn et al. Hereditary cancer in clinical practice 2020 183
• A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants.
  Li Xuanyi et al. Frontiers in cell and developmental biology 2020 848
• Harmonization and Standardization of Panel-Based Tumor Mutational Burden (TMB) Measurement: Real-World Results and Recommendations of the QuIP Study.
  Stenzinger Albrecht et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2020 Feb
• Predictors of genetic beliefs toward cancer risk perceptions among adults in the United States: Implications for prevention or early detection.
  McKinney Lawrence P et al. Journal of genetic counseling 2020 Feb
• Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?
  Gemechu Shimelis Dejene et al. Familial cancer 2020 Feb

Chronic Disease

• Human genetics of HCV infection phenotypes in the era of direct-acting antivirals.
  Nahon Pierre et al. Human genetics 2020 Feb

Ethical, Legal and Social Issues (ELSI)

• Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.
  Michie Marsha et al. Birth defects research 2020 Mar 112(4) 332-338

General Practice

• A Centralized Approach for Practicing Genomic Medicine.
  Biswas Sawona et al. Pediatrics 2020 Mar 145(3)
• Direct-to-Consumer Nutrigenetics Testing: An Overview.
  Floris Matteo et al. Nutrients 2020 Feb 12(2)
• The de-coders: A historical perspective of the genetic counseling profession.
  Cohen Leslie et al. Birth defects research 2020 Mar 112(4) 307-315
• Opportunities, challenges and expectations management for translating biobank research to precision medicine.
  O'Donnell Christopher J et al. European journal of epidemiology 2020 Feb

Heart, Lung, Blood and Sleep Diseases

• A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
  van Campen Julia et al. British journal of haematology 2020 Feb
• Intentional Non-Therapy in Long QT Syndrome (LQTS).
  MacIntyre Ciorsti J et al. Heart rhythm 2020 Feb
• The brave new world of genetic testing in the management of the dyslipidaemias.
  Nawawi Hapizah Md et al. Current opinion in cardiology 2020 Feb
• Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.
  Boardman Felicity K et al. Journal of genetic counseling 2020 Mar
• Molecular diagnosis methods in familial hypercholesterolemia.
  Moldovan Valeriu et al. Anatolian journal of cardiology 2020 Feb 23(3) 120-127
• The Genetic Puzzle of Familial Atrial Fibrillation.
  Ragab Ahmed A Y et al. Frontiers in cardiovascular medicine 2020 714
• New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.
  Chorostowska-Wynimko Joanna et al. International journal of chronic obstructive pulmonary disease 2020 15345-355
• Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.
  Sage Liz et al. Journal of vascular surgery 2020 Feb
• The Evolution of Gene-Guided Management of Inherited Arrhythmia Syndromes: Peering Beyond Monogenic Paradigms Towards Comprehensive Genomic Risk Scores.
  Rowe Matthew K et al. Journal of cardiovascular electrophysiology 2020 Feb
• Genetic screening of children with suspected inherited bleeding disorders.
  Andersson Nadine G et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Feb

Newborn Screening

• Mandatory newborn screening in the United States: History, current status, and existential challenges.
  McCandless Shawn E et al. Birth defects research 2020 Mar 112(4) 350-366

Pharmacogenomics

• Pharmacogenomics in Asian subpopulations and impacts on commonly prescribed medications.
  Lo Cody et al. Clinical and translational science 2020 Feb

Reproductive Health

• Fertility care in the era of commercial direct-to-consumer home DNA kits: issues to ponder.
  Rotshenker-Olshinka Keren et al. Journal of assisted reproduction and genetics 2020 Feb
• Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature.
  Van Steijvoort Eva et al. Human reproduction update 2020 Feb
• Maternity healthcare professionals' views and experiences of fetal genomic uncertainty: a review.
  Hui Lisa et al. Prenatal diagnosis 2020 Feb
• Non-invasive prenatal testing: what are we missing?
  Fries N et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Mar
• Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.
  De Rycke M et al. Journal of human genetics 2020 Feb

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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.