Health Impact Weekly Scan
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
- Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver Ari J et al. Genetic testing and molecular biomarkers 2016 Apr - Community engagement to inform the development of a sickle cell counselor training and certification program in Ghana.
Anie Kofi A et al. Journal of community genetics 2016 Apr - Clinical utility gene card for: Meckel syndrome - update 2016.
Bergmann Carsten et al. European journal of human genetics : EJHG 2016 Apr - Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
McRae JF, et al. BioRX 2016 April 20 - A First in Hemophilia B Therapy
Voelker R JAMA. 2016;315(15):1555 - Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.
Krabbenborg Lotte et al. Journal of genetic counseling 2016 Apr
Cancer
- Acceptance of, inclination for, and barriers in genetic testing for gene mutations that increase the risk of breast and ovarian cancers among female residents of Warsaw.
Olejniczak Dominik et al. Contemporary oncology (Poznan´, Poland) 2016 20(1) 80-5 - Parental Decision Making Regarding the Disclosure or Nondisclosure of a Mutation-Positive BRCA1/2 Test Result to Minors.
Seenandan-Sookdeo Kendra-Ann I et al. Oncology nursing forum 2016 May 43(3) 330-41 - Hereditary colorectal cancer syndromes: American Society of Clinical Oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology clinical practice guidelines.
Stoffel Elena M et al. Journal of oncology practice / American Society of Clinical Oncology 2015 May 11(3) e437-41 - A personalized paradigm in the treatment of platinum-resistant ovarian cancer - A cost utility analysis of genomic-based versus cytotoxic therapy.
Wallbillich J J et al. Gynecologic oncology 2016 Apr - The value of personalizing medicine: medical oncologists' views on gene expression profiling in breast cancer treatment.
Bombard Yvonne et al. The oncologist 2015 Apr 20(4) 351-6 - Chemoprevention of hereditary colon cancers: time for new strategies.
Ricciardiello Luigi et al. Nature reviews. Gastroenterology & hepatology 2016 Apr - Scientists worry as cancer moonshots multiply
EC Hayden, Nature News, April 27, 2016 - Moonshot to Malawi.
Gopal Satish et al. The New England journal of medicine 2016 Apr 374(17) 1604-1605 - What do patients think about the future of genome sequencing in cancer care?
by Liz Harley, Front Line Genomics, April 25, 2016 - Genetic Testing in Women With Ovarian Cancer Helps to Determine Prognosis,
by Chase Doyle, ASCO Post, April 25, 2016 - Public Health Grand Rounds - Cancer and Family History: Using Genomics for Prevention
- Molecular Profiling in Cutaneous Melanoma.
Ji Andrew L et al. Journal of the National Comprehensive Cancer Network : JNCCN 2016 Apr 14(4) 475-80 - A Bioinformatics approach for precision medicine Off-Label drug selection among triple negative breast cancer patients.
Cheng Lijun et al. Journal of the American Medical Informatics Association : JAMIA 2016 Apr - Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO).
Choi Min Chul et al. Journal of gynecologic oncology 2016 Mar e36 - Economic impact of genomic diagnostics for intermediate-risk acute myeloid leukaemia.
Cressman Sonya et al. British journal of haematology 2016 Apr - Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives.
de Geus Eveline et al. Journal of genetic counseling 2016 Apr - Is screening for pancreatic cancer in high-risk groups cost-effective? - Experience from a Danish national screening program.
Joergensen Maiken Thyregod et al. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2016 Mar - Ovarian cancer screening in menopausal females with a family history of breast or ovarian cancer.
Lai Tiffany et al. Journal of gynecologic oncology 2016 Apr e41 - Genome Sequencing: what do cancer patients think? PDF 649 KB
Genetic Alliance UK, March 2016
Chronic Diseases
- Review - Rheumatoid arthritis: What have we learned about the causing factors?
Jalil Syed Fazal et al. Pakistan journal of pharmaceutical sciences 2016 Mar 29(2) 629-45 - Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.
Goulielmos George N et al. Gene 2016 Jun 583(2) 90-101 - Whole-Genome Sequencing of a Healthy Aging Cohort.
Erikson Galina A et al. Cell 2016 Apr - Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors.
Gong Ping et al. Journal of genetic counseling 2016 Apr
Ethics, Policy and Law
- The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.
Balcom Jessica R et al. Journal of genetic counseling 2016 Apr
Genomics in Practice
- Effects of Anxiety on Novice Genetic Counseling Students' Experience of Supervised Clinical Rotations.
MacFarlane Ian M et al. Journal of genetic counseling 2016 Apr - An informatics research agenda to support precision medicine: seven key areas.
Tenenbaum Jessica D et al. Journal of the American Medical Informatics Association : JAMIA 2016 Apr - Test-Retest Reliability of the Genetics and Genomics in Nursing Practice Survey Instrument.
Calzone Kathleen A et al. Journal of nursing measurement 2016 24(1) 54-68 - Implementation Research : The Fourth Movement of the Unfinished Translation Research Symphony
UKA Sampson et al, Global Heart, March 2016 - An Alternative Methodological Approach for Cost-Effectiveness Analysis and Decision Making in Genomic Medicine.
Fragoulakis Vasilios et al. Omics : a journal of integrative biology 2016 Apr - Research participant interest in primary, secondary, and incidental genomic findings.
Loud Jennifer T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr
Cardiovascular Diseases
- Cardiovascular Risk Factors and Ischemic Heart Disease: Is the Confluence of Risk Factors Greater than the Parts? A Genetic Approach.
Elosua Roberto et al. Circulation. Cardiovascular genetics 2016 Apr - The Prospects for Cardiovascular Proteomics
Benson MD, et al. JAMA Cardiol. 2016 Apr 27 - Nutrigenomics, the Microbiome, and Gene-Environment Interactions: New Directions in Cardiovascular Disease Research, Prevention, and Treatment: A Scientific Statement From the American Heart Association.
Ferguson Jane F et al. Circulation. Cardiovascular genetics 2016 Apr - Identifying familial hypercholesterolemia in acute coronary syndrome.
Gencer Baris et al. Current opinion in lipidology 2016 Apr
Newborn Screening
- Do It Yourself Newborn Screening.
Borry Pascal et al. JAMA pediatrics 2016 Apr - Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease.
Chudleigh Jane et al. Journal of genetic counseling 2016 Apr
Reproductive Health
- Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy.
et al. Obstetrics and gynecology 2016 May 127(5) 979-81 - Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders.
et al. Obstetrics and gynecology 2016 May 127(5) 976-8
Pharmacogenomics
- Pharmacogenetic testing for the guidance of psychiatric treatment: a multicenter retrospective analysis.
Espadaler Jordi et al. CNS spectrums 2016 Apr 1-10
News/Reviews/Commentaries
- The impact of the Bellagio Report on healthy agriculture, healthy nutrition, healthy people: scientific and policy aspects and the International Network of Centers for Genetics, Nutrition and Fitness for Health.
Simopoulos Artemis P Journal of nutrigenetics and nutrigenomics 2014 0 0. (4-6) 191-211. - Parkinson's disease: Guilt by genetic association.
by Asa Abeliovich & Herve Rhinn, Nature News, April 20, 2016 - Researchers push for personalized tumour vaccines,
by Heidi Ledford, Nature News, April 22, 2016 - AstraZeneca launches project to sequence 2 million genomes,
by Heidi Ledford, Nature News, April 22, 2016 - AstraZeneca to sequence 2m genomes in hunt for new drugs,
the Guardian, April 21, 2016 - Same but Different - How epigenetics can blur the line between nature and nurture,
by Siddhartha Mukherjee, The New Yorker, May 2, 2016 - Targeted Photoimmunotherapy Approach for Cancer Moves Forward,
National Cancer Institute, April 25, 2016 - Why Patients Are Getting Hit With Surprise Bills After Genetic Testing,
by Christina Farr, Fast Company, April 20, 2016 - Genetic link found between two chronic lung diseases,
by Julian Harris, PHG Foundation, April 26, 2016 - Advances in Genome Editing,
by Catherine Offord, The Scientist, April 20, 2016 - The list of cancers that can be treated by immunotherapy keeps growing,
by Laurie McGinley, the Washington Post, April 19, 2016 - Public Health Dean Delivers Keynote on New Era of Precision Medicine During CCTS Conference,
by Elizabeth Adams. University of Kentucky News, April 25, 2016 - When It Comes to Genetic Testing, Patients and Providers Need to Meet in the Middle,
by Kaylene Ready, the Huffpost Impact Blog, April 21, 2016 - The search for superheroes immune to genetic disease,
Genomics Education Programme, April 25, 2016 - A Long Life Is Genetically Different From A Healthy One,
by Stephanie M. Lee, BuzzFeed News, April 21, 2016 - Scientists search for the genes behind healthy aging,
by Ashley Welsh, CBS News, April 21, 2016 - No Evidence To Support Screening Young Athletes,
by Larry Husten, Cardio Brief, April 20, 2016 - Health Matters | Family reunion prompts genetic testing,
by Randy Griffith, Tribdem.com, April 25, 2016 - Fat eggs shape offspring health
Watson ED, et al. Nature Genetics 48, 478?479 (2016) - Genetic secrets of the healthy elderly unveiled,
by Erika Check Hayden, Nature News, April 21, 2016 - Analysis of dog genome will provide insight into human disease
Science Magazine, April 27, 2016
CDC-Authored Genomics Publications
- Genetic variation of mini- and microsatellites and a clonal structure in Enterocytozoon bieneusi population in foxes and raccoon dogs and population differentiation of the parasite between fur animals and humans.
Li Wei, Wan Qiang, Yu Qinlei, Yang Yuqi, Tao Wei, Jiang Yanxue, Xiao Lihua Parasitology research 2016 4 0. . - In vivo activation of a T helper 2-driven innate immune response in lung fibrosis induced by multi-walled carbon nanotubes.
Dong Jie, Ma Qiang Archives of toxicology 2016 4 0. . - Molecular Insights into Crimean-Congo Hemorrhagic Fever Virus.
Zivcec Marko, Scholte Florine E M, Spiropoulou Christina F, Spengler Jessica R, Bergeron Éric Viruses 2016 0 0. (4) . - From Mosquitos to Humans: Genetic Evolution of Zika Virus.
Wang Lulan, Valderramos Stephanie G, Wu Aiping, Ouyang Songying, Li Chunfeng, Brasil Patricia, Bonaldo Myrna, Coates Thomas, Nielsen-Saines Karin, Jiang Taijiao, Aliyari Roghiyh, Cheng Genhong Cell host & microbe 2016 4 0. . - The International Dimension of the U.S. HIV Transmission Network and Onward Transmission of HIV Recently Imported into the United States.
Wertheim Joel O, Oster Alexandra M, Hernandez Angela L, Saduvala Neeraja, Bañez Ocfemia M Cheryl, Hall Irene AIDS research and human retroviruses 2016 4 0. .
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