Publication Date: Dec 5, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy.
Zhao Mingjue et al. Frontiers in genetics 2019 101105 - X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 Nov
Cancer
- Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.
et al. Obstetrics and gynecology 2019 Dec 134(6) e143-e149 - Hereditary prostate cancer - Primetime for genetic testing?
Heidegger Isabel et al. Cancer treatment reviews 2019 Dec 81101927 - Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
Dutil Julie et al. Scientific reports 2019 Nov 9(1) 17769 - Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
Monahan Kevin J et al. Gut 2019 Nov - Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course.
Takaya Hisamitsu et al. Gynecologic oncology 2019 Nov - Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes.
Bogani Giorgio et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov - 'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
Medendorp Niki M et al. Familial cancer 2019 Nov - Multitarget Stool DNA Test Performance in an Average-Risk Colorectal Cancer Screening Population.
Bosch L J W et al. The American journal of gastroenterology 2019 Nov - Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov
Chronic Disease
- Genetic testing for Alzheimer's disease: trends, challenges and ethical considerations.
Rentería Miguel E et al. Current opinion in psychiatry 2019 Nov - Current and future advances in genetic testing in systemic autoinflammatory diseases.
Schnappauf Oskar et al. Rheumatology (Oxford, England) 2019 Nov 58(Supplement_6) vi44-vi55
Ethical, Legal and Social Issues (ELSI)
- Should doctors have a legal duty to warn relatives of their genetic risks?
Middleton Anna et al. Lancet (London, England) 2019 Nov - Safeguarding Participants in Psychiatric Genetic Research: Perspectives of Key Stakeholder Groups.
Rostami Maryam et al. Ethics & human research 2019 Nov 41(6) 12-22
General Practice
- The Influence of Family Communication Patterns on the Processing of Messages to Increase Family Health History Seeking Intentions.
Hovick Shelly R et al. Health communication 2019 Nov 1-9 - Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy Dona M et al. Genome medicine 2019 Nov 11(1) 77 - Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.
De Suchetana et al. Public health genomics 2019 Nov 1-12 - Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach.
Nisselle Amy et al. Frontiers in genetics 2019 101057 - Scoping the Scene: What Do Nurses, Midwives, and Allied Health Professionals Need and Want to Know About Genomics?
Saleh Mona et al. Frontiers in genetics 2019 101066 - Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.
McGrath Scott P et al. BMC health services research 2019 Nov 19(1) 844
Heart, Lung, Blood and Sleep Diseases
- Differentiating Familial Chylomicronemia Syndrome From Multifactorial Severe Hypertriglyceridemia by Clinical Profiles.
O'Dea Louis St L et al. Journal of the Endocrine Society 2019 Dec 3(12) 2397-2410 - Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: a review from 2007/2008 to 2016/2017.
Weil Leonora G et al. Journal of clinical pathology 2019 Nov - Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.
Wand Hannah et al. Journal of genetic counseling 2019 Nov
Newborn Screening
- When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines.
Hendricks-Sturrup Rachele M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
Schlüter Daniela K et al. Thorax 2019 Nov - Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
Pharmacogenomics
- Toward Personalized Medicine Implementation: Survey of Military Medicine Providers in the Area of Pharmacogenomics.
DeLuca Jesse et al. Military medicine 2019 Dec - Prevention of Potential Adverse Metabolic Effects of a Supplementation with Omega-3 Fatty Acids Using a Genetic Score Approach.
Franck Maximilien et al. Lifestyle genomics 2019 Nov 1-11 - CYP2D6*10 pharmacogenetic-guided SERM could be a cost-effective strategy in Chinese patients with hormone receptor-positive breast cancer.
Wei Xiaoxia et al. Pharmacogenomics 2019 Nov
Reproductive Health
- International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov - Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics?
Leaver Megan et al. Human reproduction update 2019 Nov - Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Vossaert Liesbeth et al. American journal of human genetics 2019 Nov
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.
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