Genomics & Health Impact Weekly Scan :: Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

About the Genomics & Health Impact Weekly Scan

This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Tools/Databases

Birth Defects and Child Health

• Improving diagnosis for congenital cataract by introducing NGS genetic testing.
   Musleh Mohammud et al. BMJ quality improvement reports 2016 5(1)
• Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis.
   Backström-Eriksson Lena et al. BMJ open respiratory research 2016 3(1) e000141

Cancer

• BRCA Status Does Not Predict Survival for Young Patients With Breast Cancer
  J Daley, Cancer Therapy Advisor, December 9, 2016
• Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
  He Karen Y et al. PloS one 2016 11(12) e0167847
• Translation and adaptation of skin cancer genomic risk education materials for implementation in primary care.
  Rodríguez Vivian M et al. Journal of community genetics 2016 Dec
• Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
  Lieberman Sari et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
• BRCA mutation genetic testing implications in the United States.
  Bayraktar Soley et al. Breast (Edinburgh, Scotland) 2016 Dec 31224-232
• Routine use of gene panel testing in hereditary breast cancer should be performed with caution.
  van Marcke Cedric et al. Critical reviews in oncology/hematology 2016 Dec 10833-39
• Precision Oncology: Epigenetic Patterns Predict Glioblastoma Outcomes
  Francis Collins, NIH Directors' blog, December 9, 2016
• Clinical Cancer Genetics Disparities among Latinos.
  Cruz-Correa Marcia et al. Journal of genetic counseling 2016 Dec
• ONCOLOGISTS' BARRIERS AND FACILITATORS FOR ONCOTYPE DX USE: QUALITATIVE STUDY.
  Roberts Megan C et al. International journal of technology assessment in health care 2016 Dec 1-7
• Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer.
  George Angela et al. Nature reviews. Clinical oncology 2016 Dec

Chronic Diseases

• Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
  Clift Kristin et al. Prion 2016 Nov 10(6) 502-506
• Genetics of Frontotemporal Dementia.
  Olszewska Diana A et al. Current neurology and neuroscience reports 2016 Dec 16(12) 107
• The Impact of Precision Medicine in Diabetes: A Multidimensional Perspective.
  Rich Stephen S et al. Diabetes care 2016 Nov 39(11) 1854-1857
• One Weight-Loss Approach Fits All? No, Not Even Close
  G Kolata, NY Times, December 12, 2016
• Dementia Research—A Roadmap for the Next Decade
  BJ Traynor et al, JAMA Neurology, December 12, 2016

Ethics, Policy and Law

• The Precision Medicine Initiative's All of Us Research Program: an agenda for research on its ethical, legal, and social issues.
  Sankar Pamela L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
• The 21st Century Cures Act — A View from the NIH
  K Hudson et al, NEJM, December 13, 2016
• Implementing Precision Medicine: The Ethical Challenges.
  Korngiebel Diane M et al. Trends in pharmacological sciences 2016 Dec
• Precision Medicine, Diabetes, and the U.S. Food and Drug Administration.
  Meyer Robert J et al. Diabetes care 2016 Nov 39(11) 1874-1878

Genomics in Practice

• Precision Medicine Is More Than Genomic Sequencing
  Cornell University, Health Alerts, December 2016
• Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study
  Gray SW, et al. Journal of Clinical Oncology Dec 12, 2016
• Studies probe value and impact of direct-to-consumer genetic testing
  Frontline Genomics, December 13, 2016
• Genomic Competencies for Nursing Practice: Implications for Nursing Leadership.
  Boyd Andrea M et al. The Journal of nursing administration 2017 Jan 47(1) 62-67
• Precision Medicine, Genomics, and Public Health.
  Arnett Donna K et al. Diabetes care 2016 Nov 39(11) 1870-1873
• Personal-genome cancer-risk profile may not inspire lifestyle changes
  L Rapaport, Reuters Health, December 13, 2016
• Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.
  Gray Stacy W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Dec JCO2016671503

Cardiovascular Diseases

• Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
  Sanchez Olallo et al. PloS one 2016 11(12) e0167358
• The Power of Simple Life Changes to Prevent Heart Disease
  E Carroll, New York Times, December 12, 2016
• Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.
  et al. Atherosclerosis. Supplements 2016 Dec

Newborn Screening

• The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
  Wilson Callum et al. JIMD reports 2016 Dec
• Utility of a precursor-to-product ratio in the evaluation of presumptive positives in newborn screening of congenital adrenal hyperplasia.
  Tieh P Y et al. Journal of perinatology : official journal of the California Perinatal Association 2016 Dec
• Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
  Clarke Lorne A et al. The Journal of pediatrics 2016 Dec
• Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study.
  Heidari Alireza et al. Electronic physician 2016 Oct 8(10) 3048-3056

Reproductive Health

• First trimester pregnancy loss: Clinical implications of genetic testing.
  Massalska Diana et al. The journal of obstetrics and gynaecology research 2016 Dec
• Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
  Govaerts Lutgarde et al. Prenatal diagnosis 2016 Dec
• Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
  Hui Winnie W I et al. Clinical chemistry 2016 Dec
• Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
  Kauffman Tia L et al. Contemporary clinical trials 2016 Dec

Pharmacogenomics

• People susceptible to the placebo effect may be keeping us from getting new drugs
  E Vance, Washington Post, December 2016
• Pharmacogenetics-guided analgesics in major abdominal surgery: Further benefits within an enhanced recovery protocol.
  Senagore Anthony J et al. American journal of surgery 2016 Nov

Tools and Databases

• DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
  Piñero Janet et al. Nucleic acids research 2016 Oct
• Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
  Viennas Emmanouil et al. Nucleic acids research 2016 Oct

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.