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

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

Publication Date: Jan 9, 2020

Human Genomics across the Lifespan

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

Birth Defects and Child Health

• Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.
  Mazzella Jean-Michaël et al. Journal of genetic counseling 2020 Jan
• Screening for Fabry disease in patients with left ventricular noncompaction.
  Azevedo Olga et al. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2020 Jan

Cancer

• Six-gene-based prognostic model predicts overall survival in patients with uveal melanoma.
  Wan Qi et al. Cancer biomarkers : section A of Disease markers 2019 Dec
• Identification of a 13‑mRNA signature for predicting disease progression and prognosis in patients with bladder cancer.
  Yin Hubin et al. Oncology reports 2019 Dec
• Contralateral Breast Cancer and Ipsilateral Breast Tumor Recurrence in BRCA1/2 Carriers and Non-Carriers at High-Risk of Hereditary Breast Cancer.
  Yoon Kyung-Hwak et al. Journal of breast cancer 2019 Dec 22(4) 587-598
• Prognostic Role of KRAS mRNA Expression in Breast Cancer.
  Hwang Ki-Tae et al. Journal of breast cancer 2019 Dec 22(4) 548-561
• Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
  Abul-Husn Noura S et al. Genome medicine 2019 Dec 12(1) 2
• Somatic mismatch repair testing in evaluation of Lynch syndrome: The gap between preferred and current practices.
  Williams Danielle et al. Journal of genetic counseling 2020 Jan
• Predictors of contralateral prophylactic mastectomy in genetically high risk newly diagnosed breast cancer patients.
  Tynan Mara et al. Breast cancer research and treatment 2020 Jan
• Diagnostic value of seven biomarkers for breast cancer: an overview with evidence mapping and indirect comparisons of diagnostic test accuracy.
  Gao Ya et al. Clinical and experimental medicine 2020 Jan
• Three-microRNA expression signature predicts survival in triple-negative breast cancer.
  Wu Xinquan et al. Oncology letters 2020 Jan 19(1) 301-308
• Prognostic implications of the BRAF-V600 E mutation in papillary thyroid carcinoma based on a new cut-off age stratification.
  Gan Xiaoxiong et al. Oncology letters 2020 Jan 19(1) 631-640

Chronic Disease

• A Genetic Risk Score for the Estimation of Weight Loss After Bariatric Surgery.
  Katsareli E A et al. Obesity surgery 2020 Jan

Ethical, Legal and Social Issues (ELSI)

• Broad consent under the GDPR: an optimistic perspective on a bright future.
  Hallinan Dara et al. Life sciences, society and policy 2020 Jan 16(1) 1
• Beyond Mendelian Genetics: Anticipatory Biomedical Ethics and Policy Implications for the Use of CRISPR Together with Gene Drive in Humans.
  Nestor Michael W et al. Journal of bioethical inquiry 2020 Jan

Heart, Lung, Blood and Sleep Diseases

• Cystic fibrosis in the year 2020: a disease with a new face.
  De Boeck Kris et al. Acta paediatrica (Oslo, Norway : 1992) 2020 Jan
• Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
  et al. JAMA cardiology 2020 Jan
• Familial Hypercholesterolaemia in a Bulgarian Population of Patients with Dyslipidaemia and Diabetes: An Observational Study.
  Tankova Tsvetalina et al. Diabetes therapy : research, treatment and education of diabetes and related disorders 2020 Jan

Newborn Screening

• Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.
  Chan Kee et al. Global pediatric health 2019 62333794X19894812

Pharmacogenomics

• Genetic Variants Associated with T-Cell Mediated Cutaneous Adverse Drug Reactions: A Prisma-Compliant Systematic Review - an EAACI Position Paper.
  Oussalah Abderrahim et al. Allergy 2020 Jan
• Pharmacogenomic Testing in Psychiatry: Ready for Primetime?
  Rakesh Gopalkumar et al. The Journal of nervous and mental disease 2019 Dec
• PGxCorpus, a manually annotated corpus for pharmacogenomics.
  Legrand Joël et al. Scientific data 2020 7(1) 3
• Translation of pharmacogenomic drug labels into the clinic. Current problems.
  Ingelman-Sundberg Magnus et al. Pharmacological research 2019 Dec 104620

Reproductive Health

• The impact of invasive prenatal testing on anxiety and sleep quality in pregnant women with a screen-positive result for aneuploidy.
  Akbas Murat et al. Journal of psychosomatic obstetrics and gynaecology 2020 Jan 1-7
• Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.
  Öztürk Filiz Halici et al. Fetal and pediatric pathology 2020 Jan 1-9

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.