Recent Additions to the Genomics and Health Impact Scan Database || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)



September 1, 2016

Recent Additions to the Genomics and Health Impact Scan Database

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
• News/ Reviews/Comments

Birth Defects and Child Health

• Medical disorders: Stop marginalizing rare syndromes 
  SO Kolset, Nature, August 2016
• Targeted leukodystrophy diagnosis based on charges and yields for testing. 
  Richards Jackson et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2541-3
• Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices. 
  Daak Ahmed A et al. Tropical medicine & international health : TM & IH 2016 May 21(5) 642-53

Cancer

• The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review. 
  Niravath Polly et al. JAMA oncology 2016 Aug
• Study Of Breast Cancer Treatment Reveals Paradox Of Precision Medicine 
  R Harris, NPR, August 24, 2016
• Supporting families with Cancer: A patient centred survivorship model of care. 
  Craft Emily Victoria et al. Familial cancer 2015 Dec 14(4) 637-40
• Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines. 
  Marcus Rebecca K et al. Familial cancer 2015 Dec 14(4) 641-9
• Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing? 
  Larouche Geneviève et al. Familial cancer 2016 Aug
• Universal Screening for Mismatch-Repair Deficiency in Endometrial Cancers to Identify Patients With Lynch Syndrome and Lynch-like Syndrome. 
  Watkins Jaclyn C et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2016 Aug
• Breast cancer risk prediction using a clinical risk model and polygenic risk score. 
  Shieh Yiwey et al. Breast cancer research and treatment 2016 Aug
• Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. 
  Tanakaya Kohji et al. Anticancer research 2016 Apr 36(4) 1985-9
• 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer. 
  Cardoso Fatima et al. The New England journal of medicine 2016 Aug 375(8) 717-29
• My Cancer Genome: Evaluating an Educational Model to Introduce Patients and Caregivers to Precision Medicine Information. 
  Kusnoor Sheila V et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 2016112-21

Chronic Diseases

• Aging and the genetic road towards the positivity effect in memory. 
  Mammarella Nicola et al. Experimental gerontology 2016 Sep 82120-4
• The utility of genetic testing in neuromuscular disease: A Consensus Statement From the AANEM on the Clinical Utility of Genetic Testing in Diagnosis of Neuromuscular Disease. 
  Aanem Aanem et al. Muscle & nerve 2016 Aug
• The Aging Epigenome. 
  Booth Lauren N et al. Molecular cell 2016 Jun 62(5) 728-44
• Past, Present, and Future of Informed Consent in Pain and Genomics Research: Challenges Facing Global Medical Community. 
  Compagnone Christian et al. Pain practice : the official journal of World Institute of Pain 2016 Aug
• Ageing: Dietary protection for genes 
  J Oshnima et al, Nature, August 2016

Ethics, Policy and Law

• US personalized-medicine industry takes hit from Supreme Court. 
  Ledford Heidi et al. Nature 2016 Aug 536(7617) 382
• Addressing ethical challenges in the Genetics Substudy of the National Eye Survey of Trinidad and Tobago (GSNESTT). 
  Roach Allana N et al. Applied & translational genomics 2016 Jun 96-14
• The Deceptive Appeal of Direct-to-Consumer Genetics. 
  Burke Wylie et al. Annals of internal medicine 2016 Apr 164(8) 564-5
• Who should have access to genomic data and how should they be held accountable? Perspectives of Data Access Committee members and experts. 
  Shabani Mahsa et al. European journal of human genetics : EJHG 2016 Aug

Genomics in Practice

• Experiences with obtaining informed consent for genomic sequencing. 
  Bernhardt Barbara A et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2635-46
• Frequency of the CCR5-delta32 allele in Brazilian populations: A systematic literature review and meta-analysis. 
  Silva-Carvalho Wlisses Henrique Veloso et al. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2016 Sep 43101-7
• Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results. 
  Brothers Kyle B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Modeling the costs of clinical decision support for genomic precision medicine. 
  Mathias Patrick C et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 201660-4
• The intersection of precision medicine and implementation science 
  1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016
• Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals. 
  Zierhut Heather et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2647-56
• Uncertainty in the Era of Precision Medicine. 
  Hunter David J et al. The New England journal of medicine 2016 Aug 375(8) 711-3

Cardiovascular Diseases

• The Prevalence and Prognostic Importance of Possible Familial Hypercholesterolemia in Patients with Myocardial Infarction 
  S Rerup et al, AM Heart Journal, August 2016
• Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment. 
  Mehrabi Saeed et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 2016160-6
• Thousands of genes responsible for inherited risk for MI, stroke identified in specific tissues 
  Franzen O et al, Cardiology Today, August 2016
• The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. 
  Landis Benjamin J et al. Frontiers in cardiovascular medicine 2016 322
• Individualized Angiotensin-Converting Enzyme (ACE)-Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model. 
  Oemrawsingh Rohit M et al. Journal of the American Heart Association 2016 Mar 5(3) e002688
• Pharmacogenetic Risk Scores for Perindopril Clinical and Cost Effectiveness in Stable Coronary Artery Disease: When Are We Ready to Implement?
  Luzum Jasmine A et al. Journal of the American Heart Association 2016 Mar 5(3) e003440

Newborn Screening

• Long-term follow-up in newborn screening: the role of collaboration. 
  Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug

Reproductive Health

• Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study. 
  Lewis Celine et al. PloS one 2016 11(4) e0153147

Pharmacogenomics

• Role of pharmacogenetics in public health and clinical health care: a SWOT analysis 
  R Kapoor, Eur J Hum Genetics, August 31, 2016
• A brighter future for the implementation of pharmacogenomic testing 
  CH va der Wouden et al, Eur J Hum Genetics, August 31, 2016

News/Reviews/Commentaries

• Study may explain why people with type O blood more likely to die of cholera 
  Science, August 29, 2016

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.

Public Health Genomics Knowledge Base (v1.2)