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

Public Health Genomics Knowledge Base (v1.2)

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

Birth Defects and Child Health

• Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors. 
  Carré Amanda et al. Journal of genetic counseling 2016 Feb 25(1) 32-43
• Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project. 
  Hart Sarah J et al. Journal of genetic counseling 2016 Feb 25(1) 6-17
• In Search of Autism's Roots. 
  Gross Liza et al. PLoS biology 2016 Sep 14(9) e2000958
• Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. 
  Baric Ivo et al. Journal of inherited metabolic disease 2016 Sep
• Zika and Guillain-Barré Syndrome 

Cancer

• Impact of next-generation sequencing on the clinical diagnosis of pancreatic cysts. 
  Jones Martin et al. Gastrointestinal endoscopy 2016 Jan 83(1) 140-8
• Impact of Screening on Survival in Familial Adenomatous Polyposis. 
  Koskenvuo Laura et al. Journal of clinical gastroenterology 2016 Jan 50(1) 40-4
• Importance of Comprehensive Care Including Genetic Counseling for Ovary Carcinoma Patients by Gynecologic Oncologist. 
  Kim M K et al. Journal of minimally invasive gynecology 22(6S) S164
• How close are we to standardised extended RAS gene mutation testing? The UK NEQAS evaluation. 
  Richman Susan D et al. Journal of clinical pathology 2016 Sep
• Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial. 
  Quinn Veronica F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• The genomic landscape of breast cancer and its interaction with host immunity. 
  Luen Stephen et al. Breast (Edinburgh, Scotland) 2016 Oct 29241-50
• Breast Cancer Patients Have Greatly Benefited from the Progress in Molecular Oncology. 
  Groner Bernd L et al. PLoS biology 2016 Sep 14(9) e2000314
• Limits to Personalized Cancer Medicine. 
  Tannock Ian F et al. The New England journal of medicine 2016 Sep 375(13) 1289-94
• The Cancer Moonshot needs a heavy dose of computational infrastructure 
  Tech Crunch, September 2016
• Cancer immunotherapy is moving fast. Here’s what you need to know. 
  L McGinley, Washington Post, September 28, 2016
• Breast Cancer Awareness 
• GENESIS: a French national resource to study the missing heritability of breast cancer. 
  Sinilnikova Olga M et al. BMC cancer 2016 1613
• Challenges in molecular testing in non-small-cell lung cancer patients with advanced disease. 
  Hiley Crispin T et al. Lancet (London, England) 2016 Sep 388(10048) 1002-11
• Genetic screening in young women diagnosed with endometrial cancer. 
  Pecorino Basilio et al. Journal of gynecologic oncology 2016 Sep e4
• A Genomic Classifier Impacts Treatment Decision Making Among Patients With Biochemical Recurrence After Radical Prostatectomy: Results From the Multicenter Prospective PRO-IMPACT Study. 
  Perrapato S D et al. International journal of radiation oncology, biology, physics 2016 Oct 96(2S) E222-E223
• Exploring clinicians' attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer. 
  Chen Yanni et al. Familial cancer 2016 Sep
• Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL. 
  Deans Zandra C et al. Virchows Archiv : an international journal of pathology 2016 Sep

Chronic Diseases

• KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Screening for Polycystic Kidney Disease. 
  Rangan Gopala K et al. Seminars in nephrology 2015 Nov 35(6) 557-564.e6
• KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial Care. 
  Tong Allison et al. Seminars in nephrology 2015 Nov 35(6) 590-594.e5
• A Psycho-Educational Intervention for People with a Family History of Depression: Pilot Results. 
  Meiser Bettina et al. Journal of genetic counseling 2016 Sep

Ethics, Policy and Law

• The limits of traditional approaches to informed consent for genomic medicine. 
  May Thomas et al. HEC forum : an interdisciplinary journal on hospitals' ethical and legal issues 2014 Sep 26(3) 185-202
• Perspective for the development of companion diagnostics and regulatory landscape to encourage personalized medicine in Japan. 
  Tazawa Yoshiaki et al. Breast cancer (Tokyo, Japan) 2016 Jan 23(1) 19-23
• "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing. 
  Tomlinson Ashley N et al. Journal of genetic counseling 2016 Feb 25(1) 62-72
• Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population. 
  Reeves Ashley et al. Journal of genetic counseling 2016 Feb 25(1) 166-78
• Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents. 
  Fenwick Angela et al. Journal of genetic counseling 2016 Sep
• Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. 
  Wang Shuang et al. Annals of the New York Academy of Sciences 2016 Sep
• Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers. 
  Mazzucco W et al. European journal of public health 2016 Sep
• Next generation sequencing: Coping with rare genetic diseases in China. 
  Cram David S et al. Intractable & rare diseases research 2016 Aug 5(3) 140-4
• Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report. 
  Carrieri D et al. Journal of medical ethics 2016 Sep

Genomics in Practice

• The Life Course Perspective: a Guide for Genetic Counselors. 
  Hamilton Rebekah J et al. Journal of genetic counseling 2016 Feb 25(1) 44-8
• Biospecimen Sharing Among Hispanic Women in a Safety-Net Clinic: Implications for the Precision Medicine Initiative. 
  Nodora Jesse N et al. Journal of the National Cancer Institute 2017 Feb 109(2)
• Big Data, Big Research: Implementing Population Health-Based Research Models and Integrating Care to Reduce Cost and Improve Outcomes. 
  Anoushiravani Afshin A et al. The Orthopedic clinics of North America 2016 Oct 47(4) 717-24
• Why big pharma wants to collect 2 million genomes 
  H Ledford, Nature News, September 28, 2016
• Predicting the Future - Big Data, Machine Learning, and Clinical Medicine. 
  Obermeyer Ziad et al. The New England journal of medicine 2016 Sep 375(13) 1216-9
• The Precise–and Wild–Genomics Revolution 
  S Campbell, The Pulse, October 3, 2016
• Experiences and attitudes of residents regarding a community-based genome cohort study in Japan: a population-based, cross-sectional study. 
  Miyamoto Keiko et al. BMC medical genomics 2016 914
• Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. 
  Vozikis Athanassios et al. Public health genomics 2016 Sep

Cardiovascular Diseases

• Systems Medicine as an Emerging Tool for Cardiovascular Genetics. 
  Haase Tina et al. Frontiers in cardiovascular medicine 2016 327
• Disease genetics: Under pressure - genetics of hypertension. 
  Koch Linda et al. Nature reviews. Genetics 2016 Sep
• Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: Prevalence, risk factor burden, and impact on age at presentation. 
  Mortensen Martin Bødtker et al. Journal of clinical lipidology 10(5) 1145-1152.e1
• Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies. 
  Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7
• US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. 
  Ahmad Zahid S et al. Journal of clinical lipidology 10(5) 1223-9

Newborn Screening

• Newborn screening and the era of medical genomics. 
  Francescatto Ludmila et al. Seminars in perinatology 2015 Dec 39(8) 617-22

Reproductive Health

• Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis. 
  Swift Oscar et al. Genetic testing and molecular biomarkers 2016 Sep
• Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy. 
  Park Soo Yeon et al. Obstetrics & gynecology science 2016 Sep 59(5) 357-66

Pharmacogenomics

• Cytochrome P-450 gene and drug interaction analysis in patients referred for pharmacogenetic testing. 
  Hocum Brian Thomas et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Jan 73(2) 61-7
• Personalizing supportive care in oncology patients using pharmacogenetic-driven treatment pathways. 
  Andersen Rebecca L et al. Pharmacogenomics 2016 Mar 17(4) 417-34
• Impact of a personal CYP2D6 testing workshop on physician assistant student attitudes toward pharmacogenetics. 
  O'Brien Travis J et al. Pharmacogenomics 2016 Mar 17(4) 341-52
• Tamoxifen metabolism in breast cancer treatment: Taking the focus off the CYP2D6 gene 
  A Novillo et al, Pharmacogenomics Journal, October 4, 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)