Health Impact Weekly Scan
July 7-14, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Physicians' Perception of Sickle-cell Disease Pain.
Lucchesi Fátima et al. Journal of the National Medical Association 2016 May 108(2) 113-118
Cancer
- Genetic counseling content: How does it impact health behavior?
Kelly Kimberly M et al. Journal of behavioral medicine 2015 Oct 38(5) 766-76 - Impact of Modified 2013 ASCO/CAP Guidelines on HER2 Testing in Breast Cancer. One Year Experience.
Varga Zsuzsanna et al. PloS one 2015 10(10) e0140652 - Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome.
Usha Lydia et al. JAMA 2016 Jul 316(1) 93-94 - Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
CC Pritchard et al, NEJM< July 6, 2016 - The Cancer Moonshot Summit: Reaching New Heights
D Lowy, NCI, June 30, 2016 - A model for patient-direct screening and referral for familial cancer risk.
Niendorf Kristin B et al. Familial cancer 2016 Jun - Association between Ultrasound Features and the 21-Gene Recurrence Score Assays in Patients with Oestrogen Receptor-Positive, HER2-Negative, Invasive Breast Cancer.
Chae Eun Young et al. PloS one 2016 11(6) e0158461 - Racial/Ethnic Disparities in Genomic Sequencing.
Spratt Daniel E et al. JAMA oncology 2016 Jun - Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm.
Morris Brian et al. BMC genetics 2016 17(1) 99 - Successful implementation of Lynch syndrome screening in a safety net institution.
Kidambi Trilokesh D et al. Journal of community genetics 2016 Jul - Counsellee's experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information.
Stefansdottir Vigdis et al. Journal of community genetics 2016 Jul - Yield and Clinical Utility of Next-Generation Sequencing in Selected Patients With Lung Adenocarcinoma.
DiBardino David M et al. Clinical lung cancer 2016 Jun - Lynch Syndrome Testing: A Missed Opportunity in the Era of Precision Medicine.
Pasche Boris et al. JAMA 2016 Jul 316(1) 38-39 - Adjusting to Frequent Colonoscopies
Georgia Hurst, Ambry Genetics, July 4, 2016 - Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.
Shu Catherine A et al. JAMA oncology 2016 Jun - Drawing the Line in Risk-Reducing Gynecologic Surgery in Women With a BRCA Mutation.
Leath Charles A et al. JAMA oncology 2016 Jun - NIH launches largest-ever study of breast cancer genetics in black women
Findings could inform breast cancer disparities, NIH, July 6, 2016
Chronic Diseases
- Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction.
Wessel Jennifer et al. PloS one 2016 11(1) e0147071 - Family history and perceived risk of diabetes, cardiovascular disease, cancer and depression.
Vornanen Marleena et al. Preventive medicine 2016 Jun - The genetics of exceptional longevity: Insights from centenarians.
Santos-Lozano Alejandro et al. Maturitas 2016 Aug 9049-57 - Human longevity: Genetics or Lifestyle? It takes two to tango.
Passarino Giuseppe et al. Immunity & ageing : I & A 2016 1312 - Hereditary haemochromatosis.
Mohamed Muhajir et al. BMJ (Clinical research ed.) 2016 353i3128 - African Ancestry and Dangerous Blood Clots
R Lewis, PLOS Blogs, June 30, 2016
Ethics, Policy and Law
- Ethical governance in biobanks linked to electronic health records.
Caenazzo L et al. European review for medical and pharmacological sciences 2015 Nov 19(21) 4182-6 - ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22. - FDA advances Precision Medicine Initiative by issuing draft guidances on next generation sequencing-based tests
FDA, July 6, 2016
Genomics in Practice
- GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.
Kirkpatrick Brianne E et al. Human mutation 2015 Oct 36(10) 974-8 - Adolescents, Family History, and Inherited Disease Risk: An Opportunity.
Boone Philip M et al. Pediatrics 2016 Jul - Genome Connect - the ClinGen Patient Portal
- Evaluation of the Endorsement of the STrengthening the REporting of Genetic Association Studies (STREGA) Statement on the Reporting Quality of Published Genetic Association Studies.
Nedovic Darko et al. Journal of epidemiology / Japan Epidemiological Association 2016 Jun - Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.
Sirisena Nirmala D et al. Applied & translational genomics 2016 Jun 933-6 - Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists.
Scheuner Maren T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Relevance of Health Literacy to Precision Medicine
Division of Health and Medicine, National Academies Workshop in Brief, June 2016 - Making sense of big data in health research: Towards an EU action plan.
Auffray Charles et al. Genome medicine 2016 8(1) 71 - Medicine's next step
Barak Obama, Boston Globe, July 6, 2016 - NIH awards $55 million to build million-person precision medicine study
NIH News, July 6, 2016
Cardiovascular Diseases
- The ICD-10 Codes For Familial Hypercholesterolemia Are Approved!
FH Foundation, July, 2016 - Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.
Predham Sarah et al. Journal of genetic counseling 2016 Jul - Enough Evidence, Time to Act!
Rodriguez Fatima et al. Circulation 2016 Jul 134(1) 20-3 - CDC approves diagnosis codes for Familial Hypercholesterolemia
Diagnosis codes will help identify population at high risk for early heart attacks, encourage optimal management and family screening while there is still time for prevention, FH Foundation, July 5, 2016
Reproductive Health
- Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases.
Pescia Graziano et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.
Hercher Laura et al. Journal of genetic counseling 2016 Jul - Validation of combinatorial probe-anchor ligation (cPAL) based sequencing method for non-invasive prenatal testing in trisomy detection by a central laboratory.
Ma Jingmei et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Jul - Cell-free DNA Screening in Clinical Practice: Abnormal Autosomal Aneuploidy and Microdeletion Results.
Valderramos Stephanie G et al. American journal of obstetrics and gynecology 2016 Jun
Pharmacogenomics
- Validation of warfarin pharmacogenetic algorithms in 586 Han Chinese patients.
Peng Qi et al. Pharmacogenomics 2015 16(13) 1465-74 - Advocating for the Use of Pharmacogenomics: One Nurse's Story.
Pestka Elizabeth L et al. Journal of psychosocial nursing and mental health services 2016 Jul 54(7) 38-42 - Commentary: A Novel Disease-Drug Database Demonstrating Applicability for Pharmacogenomic-Based Prescribing.
Whirl-Carrillo M et al. Clinical pharmacology and therapeutics 2016 Jul
News/Reviews/Commentaries
- Why Knowing Your Genetic Data Can Be a Tricky Proposition,
by Laura Landro, Wall Street Journal, June 26, 2016 - Physiology: Stressed-out chromatin promotes longevity.
Lee Siu Sylvia, Tyler Jessica K Nature 2016 6 0. (7609) 625-6. - Uterine cancer risk higher for women with ‘breast cancer gene’ mutation,
by Laurie McGinley, the Washington Post, July 1, 2016 - Researchers develop genetic test that can predict your risk of Alzheimer's disease,
by Melissa Healy, Los Angeles Times, July 6, 2016 - The visualizations transforming biology- Inventive graphic design and abstract models are helping researchers to make sense of a glut of data.
E Callaway, Nature News and Comments, July 5, 2016 - Growing Pains for Field of Epigenetics as Some Call for Overhaul
C Zimmer, New York Times, July 1, 2016 - White House proposes measures to speed genomic test development,
by Toni Clarke, Reuters, July 7, 2016
CDC-Authored Genomics Publications
- Multiplex assay for subtyping avian influenza A viruses by cDNA hybridization and adapter-mediated amplification.
Yang Genyan, Jones Joyce, Jang Yunho, Davis C Todd Applied microbiology and biotechnology 2016 7 0. . - Virus fitness differences observed between two naturally occurring isolates of Ebola virus Makona variant using a reverse genetics approach.
Albariño César G, Guerrero Lisa Wiggleton, Chakrabarti Ayan K, Kainulainen Markus H, Whitmer Shannon L M, Welch Stephen R, Nichol Stuart T Virology 2016 6 0. 237-243. - Unique safety issues associated with virus-vectored vaccines: Potential for and theoretical consequences of recombination with wild type virus strains.
Condit Richard C, Williamson Anna-Lise, Sheets Rebecca, Seligman Stephen J, Monath Thomas P, Excler Jean-Louis, Gurwith Marc, Bok Karin, Robertson James S, Kim Denny, Michael Hendry R, Singh Vidisha, Mac Lisa M, Chen Robert T, Vaccine 2016 6 0. . - High-Quality Draft Genome Sequences for Five Non-O157 Shiga Toxin-Producing Escherichia coli Strains Generated with PacBio Sequencing and Optical Maps.
Lindsey Rebecca L, Rowe Lori, Garcia-Toledo Lisley, Loparev Vladimir, Knipe Kristen, Stripling Devon, Martin Haley, Trees Eija, Juieng Phalasy, Batra Dhwani, Strockbine Nancy Genome announcements 2016 0 0. (3) .
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.
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