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

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

Publication Date: Sep 17, 2020

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer Genomics
• Hereditary 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

• 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.
  Ujfalusi Anikó et al. Molecular syndromology 2020 Jul 11(3) 146-152
• Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific.
  Leung Daniel et al. Frontiers in immunology 2020 111605
• Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.
  Fjermestad Krister W et al. Molecular genetics & genomic medicine 2020 Sep e1399

Cancer Genomics

• Engaging Patients in Precision Oncology: Development and Usability of a Web-Based Patient-Facing Genomic Sequencing Report.
  Solomon Ilana B et al. JCO precision oncology 2020 4
• Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial.
  Turner Nicholas C et al. The Lancet. Oncology 2020 Sep
• Genomic Analysis of Metastatic Solid Tumors in Veterans: Findings From the VHA National Precision Oncology Program.
  Poonnen Pradeep J et al. JCO precision oncology 2019 3
• Clinical Relevance of an Amplicon-Based Liquid Biopsy for Detecting ALK and ROS1 Fusion and Resistance Mutations in Patients With Non-Small-Cell Lung Cancer.
  Mezquita Laura et al. JCO precision oncology 2020 4
• BRCA Mutations, Homologous DNA Repair Deficiency, Tumor Mutational Burden, and Response to Immune Checkpoint Inhibition in Recurrent Ovarian Cancer.
  Liu Ying L et al. JCO precision oncology 2020 4
• Oncologist Confidence in Genomic Testing and Implications for Using Multimarker Tumor Panel Tests in Practice.
  de Moor Janet S et al. JCO precision oncology 2020 4
• Identification of Actionable Genomic Alterations Using Circulating Cell-Free DNA.
  Sánchez Nora S et al. JCO precision oncology 2019 3
• Genomic Profiling for KRAS , NRAS , BRAF , Microsatellite Instability, and Mismatch Repair Deficiency Among Patients With Metastatic Colon Cancer.
  Gutierrez Martin E et al. JCO precision oncology 2019 3
• Prospective Decision Analysis Study of Clinical Genomic Testing in Metastatic Breast Cancer: Impact on Outcomes and Patient Perceptions.
  Stover Daniel G et al. JCO precision oncology 2019 3
• Genomic analysis of low-grade serous ovarian carcinoma to identify key drivers and therapeutic vulnerabilities.
  Cheasley Dane et al. The Journal of pathology 2020 Sep
• Genomic expression assay testing among American Indian and Alaska Native women with breast cancer.
  Marmor Schelomo et al. Cancer 2020 Sep
• Characterizing patient-oncologist communication in genomic tumor testing: The 21-gene recurrence score as an exemplar.
  O'Neill Suzanne C et al. Patient education and counseling 2020 Sep
• Comparing mutation frequencies for homologous recombination genes in uterine serous and high-grade serous ovarian carcinomas: A case for homologous recombination deficiency testing in uterine serous carcinoma.
  Wallbillich John J et al. Gynecologic oncology 2020 Sep
• Genomic copy number predicts esophageal cancer years before transformation.
  Killcoyne Sarah et al. Nature medicine 2020 Sep

Hereditary Cancer

• Endometrial Cancers in BRCA1 or BRCA2 Germline Mutation Carriers: Assessment of Homologous Recombination DNA Repair Defects.
  Smith Evan S et al. JCO precision oncology 2019 3
• Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer - Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
  Ataseven Beyhan et al. Geburtshilfe und Frauenheilkunde 2020 Sep 80(9) 932-940
• Adherence to NCCN Guidelines for Genetic Testing in Breast Cancer Patients: Who Are We Missing?
  Alberty-Oller J Jaime et al. Annals of surgical oncology 2020 Sep
• Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.
  Calip Gregory S et al. Breast cancer research and treatment 2020 Sep
• Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk.
  Hughes Elisha et al. JCO precision oncology 2020 4
• Factors associated with being diagnosed with high severity of breast cancer: a population-based study in Queensland, Australia.
  Kou Kou et al. Breast cancer research and treatment 2020 Sep
• Genetic Testing and Surveillance of Young Breast Cancer Survivors and Blood Relatives: A Cluster Randomized Trial.
  Katapodi Maria C et al. Cancers 2020 Sep 12(9)
• Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.
  Esterling Lisa et al. JCO precision oncology 2020 4
• Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
  Rivera Daniela et al. Journal of clinical pathology 2020 Sep
• Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.
  Mighton Chloe et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
• Germline mutations and prostate cancer: is it time to change treatment algorithms?
  Telvizian Talar et al. Chinese clinical oncology 2020 Aug
• Parent-Child Communication and Reproductive Considerations in Families with Genetic Cancer Predisposition Syndromes: A Systematic Review.
  Dattilo Taylor M et al. Journal of adolescent and young adult oncology 2020 Sep
• Using a Chatbot to Assess Hereditary Cancer Risk.
  Welch Brandon M et al. JCO clinical cancer informatics 2020 Sep 4787-793
• Identification of Women at High Risk of Breast Cancer Who Need Supplemental Screening.
  Eriksson Mikael et al. Radiology 2020 Sep 201620

Chronic Disease

• The complex relationship between genotype, pathology and phenotype in familial dementia.
  Kwok John B et al. Neurobiology of disease 2020 Sep 105082
• An atlas on risk factors for type 2 diabetes: a wide-angled Mendelian randomisation study.
  Yuan Shuai et al. Diabetologia 2020 Sep
• The vascular epigenome in patients with obesity and type 2 diabetes: opportunities for personalized therapies.
  Costantino Sarah et al. Vascular biology (Bristol, England) 2020 2(1) H19-H28

Ethical, Legal and Social Issues (ELSI)

• Human germline editing in the era of CRISPR-Cas: risk and uncertainty, inter-generational responsibility, therapeutic legitimacy.
  Schleidgen Sebastian et al. BMC medical ethics 2020 Sep 21(1) 87
• Noninvasive preimplantation genetic testing for aneuploidies (niPGT-A) and the principle of primum non nocere.
  Franco Jose G et al. JBRA assisted reproduction 2020 Sep
• The Skeleton in the Closet: Faults and Strengths of Public Versus Private Genetic Biobanks.
  Tozzo Pamela et al. Biomolecules 2020 Sep 10(9)
• Don't ignore genetic data from minority populations.
  Ben-Eghan Chief et al. Nature 2020 Sep 585(7824) 184-186

General Practice

• Implementing innovative service delivery models in genetic counseling: a qualitative analysis of facilitators and barriers.
  Khan Ambreen et al. Journal of genetic counseling 2020 Sep
• Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
  McCormick Elizabeth M et al. Human mutation 2020 Sep
• The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
  Park Kyoung-Jin et al. Laboratory medicine 2020 Sep

Heart, Lung, Blood and Sleep Diseases

• Premature Parental Cardiovascular Disease and Subclinical Disease Burden in the Offspring.
  Lieb Wolfgang et al. Journal of the American Heart Association 2020 Sep e015406
• Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing.
  Ripoll-Vera Tomás et al. Revista espanola de cardiologia (English ed.) 2020 Sep
• Electronic health records to facilitate continuous detection of familial hypercholesterolemia.
  Pepplinkhuizen Shari et al. Atherosclerosis 2020 Aug 31083-87
• Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry.
  Canepa Marco et al. Circulation. Heart failure 2020 Sep CIRCHEARTFAILURE120007230
• Familial Legacy of Thoracic Aortic Aneurysm.
  Elefteriades John A et al. Circulation 2020 Sep 142(10) 929-931

Newborn Screening

• Newborn Screening Practices and Alpha-Thalassemia Detection - United States, 2016.
  Bender M A et al. MMWR. Morbidity and mortality weekly report 2020 Sep 69(36) 1269-1272

Pharmacogenomics

• Literature Review Concerning the Challenges of Implementing Pharmacogenetics in Primary Care Practice.
  Omer Mohamed S et al. Cureus 2020 Aug 12(8) e9616
• Pharmacist's attitudes and knowledge of pharmacogenomics and the factors that may predict future engagement.
  Hundertmark Megan E et al. Pharmacy practice 18(3) 2008
• CYP19A1 rs10046 pharmacogenetics in postmenopausal breast cancer patients treated with aromatase inhibitors: One-year follow-up.
  Baatjes Karin et al. Current pharmaceutical design 2020 Sep
• Costing Methods as a Means to Measure the Costs of Pharmacogenomics Testing.
  Siamoglou Stavroula et al. The journal of applied laboratory medicine 2020 Sep 5(5) 1005-1016
• Impact of the CYP2C19*17 allele on outcomes in patients receiving genotype-guided antiplatelet therapy after percutaneous coronary intervention.
  Lee Craig R et al. Clinical pharmacology and therapeutics 2020 Sep

Reproductive Health

• Reproductive Male Partner Testing When The Female Is Identified To Be A Genetic Disease Carrier.
  Simone Laurie et al. Prenatal diagnosis 2020 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.