Human Genomics across the Lifespan

Public Health Genomics Knowledge Base (v1.2)

Publication Date: Dec 1, 2016

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
• Diabetes

Birth Defects and Child Health

• Muscling out gene mutations
  KA WHitehead, Sci Trans Medicine, November 30, 2016
• Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
  Gallo Vera et al. Frontiers in immunology 2016 7466
• Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
  Ortiz-Cabrera N V et al. Molecular genetics and metabolism reports 2016 Dec 979-85
• The Rise and Rise of Exome Sequencing.
  Ku Chee-Seng et al. Public health genomics 2016 Nov
• A comprehensive global genotype–phenotype database for rare diseases
  R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016
• Revisiting the morbid genome of Mendelian disorders.
  Abouelhoda Mohamed et al. Genome biology 2016 Nov 17(1) 235
• Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
  Anderson J A et al. Journal of medical ethics 2016 Nov
• Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices.
  Domínguez-Carral J et al. European journal of medical genetics 2016 Nov
• Genetic Screening in Patients with Craniofacial Malformations.
  Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224
• Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.
  Morava Eva et al. Journal of inherited metabolic disease 2016 Nov

Cancer

• From genes to therapies -- Systems Medicine of Neuro Endocrine Prostate Cancer - Beyond the Abstract 
  K Rehman, Uro Today, November 2016
• Tracking the dissemination of a culturally targeted brochure to promote awareness of hereditary breast and ovarian cancer among Black women.
  Scherr Courtney Lynam et al. Patient education and counseling 2016 Oct
• Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan.
  Yamano Tomoki et al. Cancer science 2016 Nov
• Measuring Erythrocyte Thiopurine Methyltransferase Activity in Children-Is It Helpful?
  Ma Alison L T et al. The Journal of pediatrics 2016 Dec 179216-218
• Orthodox Jewish Thought Leaders' Insights Regarding BRCA Mutations: A Descriptive Study.
  Bressler Toby et al. Journal of oncology practice 2016 Nov JOP2016015503
• Precision medicine in cancer: challenges and recommendations from an EU-funded cervical cancer biobanking study.
  Samuels Sanne et al. British journal of cancer 2016 Nov
• Clinical and genetic determinants of ovarian metastases from colorectal cancer.
  Ganesh Karuna et al. Cancer 2016 Nov
• US Cancer Moonshot must strike a balance between research and prevention.
  et al. Nature 2016 Nov 539(7630) 467
• The impact of reproductive life on breast cancer risk in women with family history or BRCA mutation.
  Toss Angela et al. Oncotarget 2016 Nov
• PARP Inhibitors in Ovarian Cancer Treatment
  DR Spriggs et al,NEJM, November 30, 2016
• Genetic Risk, Smoking Behavior And The Question Of False Reassurance
  R Green, Huffington Post, November 2016
• CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.
  Rodriguez Juan L et al. MMWR. Morbidity and mortality weekly report 2016 Nov 65(46) 1291-1294
• Institutional implementation of clinical tumor profiling on an unselected cancer population.
  Sholl Lynette M et al. JCI insight 2016 Nov 1(19) e87062
• BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.
  Loizidou M A et al. Clinical genetics 2016 Oct
• Quantification and expert evaluation of evidence for chemopredictive biomarkers to personalize cancer treatment.
  Rao Shruti et al. Oncotarget 2016 Nov
• Overcoming Cost Implications of Mutational Analysis in Patients with Gastrointestinal Stromal Tumors: A Pragmatic Approach.
  Schöffski Patrick et al. Oncology research and treatment 2016 39(12) 811-816
• Clone-specific MYD88 L265P and CXCR4 mutation status can provide clinical utility in suspected Waldenström macroglobulinemia/lymphoplasmacytic lymphoma.
  Burnworth Bettina et al. Leukemia research 2016 Dec 5141-48
• The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome.
  Kim Min Kyu et al. Journal of gynecologic oncology 2016 Nov e17
• Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.
  Döhner Hartmut et al. Blood 2016 Nov
• Feasibility and clinical integration of molecular profiling for target identification in pediatric solid tumors.
  Pincez Thomas et al. Pediatric blood & cancer 2016 Nov
• Methylation of gene panel may help predict breast CA survival
  Medical Xpress, November 29, 2016
• Acute Myeloid Leukemia — Many Diseases, Many Treatments
  E Esley, NEJM, November 25, 2016

Chronic Diseases

• Future Therapies in Obesity.
  Pickett-Blakely Octavia et al. Gastroenterology clinics of North America 2016 Dec 45(4) 705-714
• A randomized trial Examining The Impact Of Communicating Genetic And Lifestyle Risks For Obesity.
  Wang Catharine et al. Obesity (Silver Spring, Md.) 2016 Dec 24(12) 2481-2490
• Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists.
  Arthur Karissa C et al. JAMA neurology 2016 Nov
• The Thin Gene
  P Kennedy, New York Times, November 25, 2016

Ethics, Policy and Law

• Skepticism in the Genomic Era.
  Zacharias Rachel L et al. The Hastings Center report 2016 Nov 46(6) inside front cover
• Precision medicine?
  Welch Thomas R et al. The Journal of pediatrics 2016 Dec 1793-4
• Ethics knowledge of recent paediatric residency graduates: the role of residency ethics curricula.
  Kesselheim Jennifer C et al. Journal of medical ethics 2016 Dec 42(12) 809-814
• Personalized Medicine in a New Genomic Era: Ethical and Legal Aspects.
  Shoaib Maria et al. Science and engineering ethics 2016 Nov

Genomics in Practice

• Medicine Gets Personal
  N Loder, the World in 2017, November 2016
• A conversation with Sue Desmond-Hellman, CEO of Bill and Melinda Gates Foundation
  American Enterprise Institute, November 29, 2016
• Announcement: National Family History Day - November 24, 2016.
  et al. MMWR. Morbidity and mortality weekly report 2016 Nov 65(46) 1305
• Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity.
  Shugar Andrea et al. Journal of genetic counseling 2016 Nov
• Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions.
  Smith Maureen E et al. BMC medical research methodology 2016 Nov 16(1) 162
• Time to rethink the capture and use of family history in primary care.
  Nathan Paul A et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2016 Dec 66(653) 627-628
• Genetics and genomic medicine in Morocco: the present hope can make the future bright.
  Belhassan Khadija et al. Molecular genetics & genomic medicine 2016 Nov 4(6) 588-598
• DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.
  Yang Shan et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 22166-176
• Business Planning in Biobanking: How to Implement a Tool for Sustainability.
  Ciaburri Mirella et al. Biopreservation and biobanking 2016 Nov
• What does it take to be a leader in precision medicine?
  H Ross et al, Stat News, November 25, 2016
• The power of big data must be harnessed for medical progress.
  et al. Nature 2016 Nov 539(7630) 467-468
• In-Depth: Consumer genomics and the road to legitimacy
  H Mack, Mobile Health News, November 23, 2016
• Big Data Coming In Faster Than Biomedical Researchers Can Process It
  R Harris, NPR News,November 28, 2016

Cardiovascular Diseases

• Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.
  Chae Hyojin et al. Clinica chimica acta; international journal of clinical chemistry 2016 Nov 464128-135
• Factors associated with young adults' knowledge regarding family history of Stroke.
  Lima Maria Jose Melo Ramos et al. Revista latino-americana de enfermagem 2016 Nov 24e2814
• Increasing the Detection of FH Using General Practice Electronic Databases.
  Vickery Alistair W et al. Heart, lung & circulation 2016 Nov
• A novel approach to screening for familial hypercholesterolemia in a large public venue.
  Campbell Megan et al. Journal of community genetics 2016 Nov

Newborn Screening

• Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly, Study Finds
  J Fernandez, CF Foundation, November 18, 2016
• Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
  Barbaro Michela et al. Journal of clinical immunology 2016 Nov

Reproductive Health

• Prenatal cfDNA Screening Results Indicative Of Maternal Neoplasm: Survey Of Current Practice And Management Needs.
  Giles Meagan E et al. Prenatal diagnosis 2016 Nov

Pharmacogenomics

• Iterative Development and Evaluation of a Pharmacogenomic-Guided Clinical Decision Support System for Warfarin Dosing.
  Melton Brittany L et al. Applied clinical informatics 2016 Nov 7(4) 1088-1106

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.