Publication Date: Nov 14, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.
Deuitch Natalie et al. Journal of genetic counseling 2019 Nov - Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit.
Costales María et al. Acta otorrinolaringologica espanola 2019 Nov - Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
Johansen Taber Katherine et al. Molecular genetics & genomic medicine 2019 Nov e1024 - Adolescents' and Parents' Genomic Testing Decisions: Associations With Age, Race, and Sex.
Myers Melanie F et al. The Journal of adolescent health : official publication of the Society for Adolescent Medicine 2019 Nov - Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Zeltner Nina A et al. Orphanet journal of rare diseases 2019 Nov 14(1) 248 - A framework for youth-friendly genetic counseling.
Young Mary-Anne et al. Journal of community genetics 2019 Nov - Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Schoenaker M H D et al. European journal of pediatrics 2019 Nov
Cancer
- Multigene assays in early breast cancer: Insights from recent phase 3 studies.
Markopoulos C et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2019 Oct - Prognostic impact of tumor mutation burden and the mutation in KIAA1211 in small cell lung cancer.
Zhou Mengting et al. Respiratory research 2019 Nov 20(1) 248 - Cost-utility analysis of 21-gene assay for node-positive early breast cancer.
Masucci L et al. Current oncology (Toronto, Ont.) 2019 Oct 26(5) 307-318 - Health Care Provider Perceptions of Caring for Individuals with Inherited Pancreatic Cancer Risk.
Underhill Meghan L et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Nov - A prognostic five long-noncoding RNA signature for patients with rectal cancer.
Zhao Kankan et al. Journal of cellular biochemistry 2019 Nov - Impact of 21-gene recurrence score testing on adjuvant chemotherapy decision making in older patients with breast cancer.
Zeng Yufei et al. Journal of geriatric oncology 2019 Nov - Hereditary Polyposis Syndromes.
Kidambi Trilokesh D et al. Current treatment options in gastroenterology 2019 Nov - Impact of 21-Gene Expression Assay on Clinical Outcomes in Node-Negative ≤ T1b Breast Cancer.
Pomponio Maria et al. Annals of surgical oncology 2019 Nov - The prevalence and prognostic value of KRAS co-mutation subtypes in Chinese advanced non-small cell lung cancer patients.
Cai Dongjing et al. Cancer medicine 2019 Nov - Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers.
Matsubayashi Hiroyuki et al. Diagnostics (Basel, Switzerland) 2019 Oct 9(4) - Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
Dowson Cassandra B et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov
Chronic Disease
- Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade?
Kisla Ekinci Rabia Miray et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2019 Oct - Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Eno Celeste C et al. Molecular genetics & genomic medicine 2019 Nov e1026 - CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges.
Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Nov 20(sup1) 327-347 - Precision Medicine in Pancreatic Disease-Knowledge Gaps and Research Opportunities: Summary of a National Institute of Diabetes and Digestive and Kidney Diseases Workshop.
Lowe Mark E et al. Pancreas 48(10) 1250-1258 - Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee Diana C et al. Journal of the peripheral nervous system : JPNS 2019 Nov
Ethical, Legal and Social Issues (ELSI)
- Pharmacogenomic Testing In Pediatrics: Navigating The Ethical, Social, And Legal Challenges.
Haga Susanne B et al. Pharmacogenomics and personalized medicine 2019 12273-285 - Consent for newborn screening: screening professionals' and parents' views.
Ulph F et al. Public health 2019 Nov 178151-158 - Personalized medicine in psychiatric disorders: prevention and bioethical questions.
Quattrocchi A et al. La Clinica terapeutica 170(6) e421-e424
General Practice
- Genetic counselors' attitudes toward and practice related to psychiatric genetic counseling.
Booke Stephanie et al. Journal of genetic counseling 2019 Nov - Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente.
Jonas M Cabell et al. Journal of personalized medicine 2019 Nov 9(4) - Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs Erin Rooney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov - Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics.
Rosier Marion et al. Journal of health psychology 2019 Nov 1359105319886622 - Please pass the stuffing and family health history,
By Dr. Graham A. Colditz, The Marshfield Mail. November 8, 2019 - Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov
Heart, Lung, Blood and Sleep Diseases
- Economic evaluation of a novel genetic screening test for risk of venous thromboembolism compared with standard of care in women considering combined hormonal contraception in Switzerland.
Sutherland C Simone et al. BMJ open 2019 Nov 9(11) e031325 - Patients with High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit from Alirocumab Treatment in the Odyssey Outcomes Trial.
Damask Amy et al. Circulation 2019 Nov - Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.
Jin Weirong et al. BMC medical genetics 2019 Nov 20(1) 173 - Vascular age derived from coronary artery calcium score on the risk stratification of individuals with heterozygous familial hypercholesterolaemia.
Miname Marcio H et al. European heart journal cardiovascular Imaging 2019 Nov
Newborn Screening
- First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez Ana et al. Frontiers in immunology 2019 102406
Pharmacogenomics
- Effects of Pharmacogenetic Screening for CYP2D6 Among Elderly Starting Therapy With Nortriptyline or Venlafaxine: A Pragmatic Randomized Controlled Trial (CYSCE Trial).
van der Schans Jurjen et al. Journal of clinical psychopharmacology 2019 Oct - Projected Cost-Effectiveness for 2 Gene-Drug Pairs Using a Multigene Panel for Patients Undergoing Percutaneous Coronary Intervention.
Hart M Ragan et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Nov 22(11) 1231-1239 - Global Pharmacogenomics Within Precision Medicine: Challenges and Opportunities.
Chenoweth Meghan J et al. Clinical pharmacology and therapeutics 2019 Nov - Drug Prescribing and Outcomes After Pharmacogenomic Testing in a Developmental and Behavioral Health Pediatric Clinic.
Patel Jai N et al. Journal of developmental and behavioral pediatrics : JDBP 2019 Oct - Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation.
Popejoy Alice B et al. Pharmacogenomics and personalized medicine 2019 12257-271
Reproductive Health
- Considerations for whole exome sequencing unique to prenatal care.
Abou Tayoun Ahmad et al. Human genetics 2019 Nov - How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature.
Cannon Jeffrey et al. Expert review of molecular diagnostics 2019 Nov - Implementing non-invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expanding scope.
Bakkeren Iris M et al. Journal of genetic counseling 2019 Nov - Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk.
Muzzey Dale et al. Prenatal diagnosis 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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