Publication Date: Sep 26, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- The application of PGT-A for carriers of balanced structural chromosomal rearrangements.
Violeta Fodina et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019 35(sup1) 18-23 - A position statement about predictive genetic testing among children.
Mrayyan Majd et al. Nursing children and young people 2019 Sep - Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada.
Campbell Teresa et al. Paediatrics & child health 2019 Sep 24(6) 395-401 - Yield of modern genetic evaluation for patients with proximal hypospadias and descended gonads.
Rowe C K et al. Journal of pediatric urology 2019 Jul - Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis.
Connolly Mark P et al. Orphanet journal of rare diseases 2019 Sep 14(1) 220 - Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States.
Zhao Shixi et al. Journal of autism and developmental disorders 2019 Sep - Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Nguengang Wakap St?phanie et al. European journal of human genetics : EJHG 2019 Sep
Cancer
- A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George Sally L et al. European journal of cancer (Oxford, England : 1990) 2019 Sep - Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
Casasanta Nicole et al. Clinical breast cancer 2019 Aug - Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.
Ndugga-Kabuye Mesaki K et al. Familial cancer 2019 Sep - Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell Diego et al. Cancers 2019 Sep 11(9) - Molecular targeted therapy of glioblastoma.
Le Rhun Emilie et al. Cancer treatment reviews 2019 Sep 80101896 - An updated review of microsatellite instability in the era of next-generation sequencing and precision medicine.
Yamamoto Hiroyuki et al. Seminars in oncology 2019 Sep - Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
Batalini Felipe et al. Breast cancer research : BCR 2019 Sep 21(1) 107 - Detection of RAS mutations in circulating tumor DNA: a new weapon in an old war against colorectal cancer. A systematic review of literature and meta-analysis.
Galvano Antonio et al. Therapeutic advances in medical oncology 2019 111758835919874653 - Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.
Greenberg Samantha et al. Cancer medicine 2019 Sep - Health professional and at-risk BRCA young adult perspectives about information needs: What does Gen Y need to know?
Young Alison Luk et al. Journal of genetic counseling 2019 Sep - What do cancer patients' relatives think about addressing cancer family history and performing genetic testing in palliative care?
Cléophat Jude E et al. European journal of human genetics : EJHG 2019 Sep
Chronic Disease
- Circulating miRNAs as Novel Diagnostic Biomarkers in Nonalcoholic Fatty Liver Disease: A Systematic Review and Meta-Analysis.
Cai Changzhou et al. Canadian journal of gastroenterology & hepatology 2019 20192096161 - Complement Factor H Gene Mutations: Implications for Genetic Testing and Precision Medicine in Macular Degeneration.
den Hollander Anneke I et al. Ophthalmology 2019 Oct 126(10) 1422-1423 - Perceptions of precision medicine among diverse dementia caregivers and professional providers.
Gaugler Joseph E et al. Alzheimer's & dementia (New York, N. Y.) 2019 5468-474
Ethical, Legal and Social Issues (ELSI)
- Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research.
Goisauf Melanie et al. PloS one 2019 14(9) e0221496 - Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.
Milne Richard et al. Human genetics 2019 Sep - Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some.
Childerhose Janet E et al. Ethics & human research 2019 Sep 41(5) 2-15 - Moving Beyond 'Therapy' and 'Enhancement' in the Ethics of Gene Editing.
Cwik Bryan et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2019 Oct 28(4) 695-707 - Rethinking the ethical principles of genomic medicine services.
Johnson Stephanie B et al. European journal of human genetics : EJHG 2019 Sep - Stakeholders' perspectives on the post-mortem use of genetic and health-related data for research: a systematic review.
Bak Marieke A R et al. European journal of human genetics : EJHG 2019 Sep
General Practice
- Genome sequencing in healthcare: understanding the UK general public's views and implications for clinical practice.
Ballard Lisa M et al. European journal of human genetics : EJHG 2019 Sep - Supervision in genetic counselor training in North America: A systematic review.
Siskind Carly E et al. Journal of genetic counseling 2019 Sep - Making work visible for electronic phenotype implementation: lessons learned from the eMERGE network.
Shang Ning et al. Journal of biomedical informatics 2019 Sep 103293 - Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Brandt Tracy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep
Heart, Lung, Blood and Sleep Diseases
- Clinical utility of exome sequencing in infantile heart failure.
Ritter Alyssa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep - Gene therapy for hemophilia: Progress to date and challenges moving forward.
Gollomp Kandace L et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019 Aug - Biobanking for discovery of novel cardiovascular biomarkers using imaging-quantified disease burden: protocol for the longitudinal, prospective, BioHEART-CT cohort study.
Kott Katharine A et al. BMJ open 2019 Sep 9(9) e028649 - The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Lahrouchi Najim et al. European journal of human genetics : EJHG 2019 Sep - Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Bennett Jeffrey S et al. Pediatric cardiology 2019 Sep - Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.
Hiraide Takahiro et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2019 Sep - The Pharmacogenomics of Inhaled Corticosteroids and Lung Function Decline in COPD.
Obeidat Ma'en et al. The European respiratory journal 2019 Sep
Newborn Screening
- Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting.
Alvarez Ofelia A et al. Pediatrics 2019 Sep - Newborn Screening With Sickle Cell Point of Care: A Valuable Resource in Low-Income Settings.
Ware Russell E et al. Pediatrics 2019 Sep
Pharmacogenomics
- The Influence of Beta-2 Adrenergic Receptor Gene Polymorphisms on Albuterol Therapy for Patients With Asthma: Protocol for a Systematic Review and Meta-Analysis.
Hikino Keiko et al. JMIR research protocols 2019 Sep 8(9) e14759 - Comparison of Two Different Techniques Of Warfarin Dosing Determination - A Chemometrics Study.
Makohusová Miroslava et al. Iranian journal of pharmaceutical research : IJPR 2019 18(2) 1010-1019 - From the Origins of Pharmacogenetics to First Applications in Psychiatry.
Müller Daniel J et al. Pharmacopsychiatry 2019 Sep - Updated Expert Consensus Statement on Platelet Function and Genetic Testing for Guiding P2Y 12 Receptor Inhibitor Treatment in PCI.
Pauley Eric D et al. JACC. Cardiovascular interventions 2019 Sep 12(18) 1867 - PharmVar GeneReview: CYP2D6.
Nofziger Charity et al. Clinical pharmacology and therapeutics 2019 Sep
Reproductive Health
- Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
Kuleva M et al. BJOG : an international journal of obstetrics and gynaecology 2019 Oct 126(11) 1372-1379 - Variations in prenatal screening in a US federal healthcare system: Same coverage, different options.
Thagard Andrew S et al. Journal of genetic counseling 2019 Sep
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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