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
- Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
Cacioppo Cara N et al. PloS one 2016 11(4) e0153597 - New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio Gerarda et al. Italian journal of pediatrics 2016 42(1) 39 - The Cystic Fibrosis Foundation Patient Registry: Design and Methods of a National Observational Disease Registry.
Knapp Emily A et al. Annals of the American Thoracic Society 2016 Apr - Personalizing the royal treatment for hemophilia
Hulbert ML Science Translational Medicine 20 Apr 2016
Cancer
- How I Do It: Genetic counseling and genetic testing for inherited prostate cancer.
Giri Veda N et al. The Canadian journal of urology 2016 Apr 23(2) 8247-53 - Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model
Lee AJ, et al. Genetics in Medicine (2016) April 14 - Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations
D? Andrea E, et al. Genetics in Medicine (2016) April 14 - Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered.
Bijlsma Rhodé M et al. European journal of human genetics : EJHG 2016 Apr - Universal Genomic Testing Needed to Win the War Against Cancer: Genomics IS the Diagnosis.
Subbiah Vivek et al. JAMA oncology 2016 Apr
Chronic Diseases
- Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Marras Connie et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr 31(4) 436-57
Ethics, Policy and Law
- Feedback of Individual Genetic Results to Research Participants: Is it Feasible in Europe?
Budin-Ljøsne Isabelle et al. Biopreservation and biobanking 2016 Apr - Genetic discrimination lawsuit raises broader concerns about testing, privacy: Case involves middle school student impacted by results of genetic screening test as newborn.
et al. American journal of medical genetics. Part A 2016 May 170(5) 1111-2
Genomics in Practice
- A research roadmap for next-generation sequencing informatics
Altman, RB, et al. Science Translational Medicine 20 Apr 2016
Cardiovascular Diseases
- Expert consensus on the rational clinical use of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.
Achimastos Apostolos et al. Hormones (Athens, Greece) 2016 Jan 15(1) 8-14
Newborn Screening
- High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
Poulsen Jesper Buchhave et al. PloS one 2016 11(4) e0153253
Reproductive Health
- Live births, natural losses, and elective terminations with Down syndrome in Massachusetts
De Graf G, et al. Genetics in Medicine (2016) April 14
News/Reviews/Commentaries
- 5 Things You Need to Know about Genetic Testing,
by Jeffrey Briggs, Mayo Clinic, April 16, 2016 - Scientists identify genes connected to wellbeing, depression and neuroticism,
Science Daily, April 19, 2016 - The path of most resistance – causal human biology and the druggable genome,
by Robert Plenge, Plenge Gen, April 16, 2016 - Gene-editing hack yields pinpoint precision,
by Heidi Ledford, Nature News, April 20, 2016 - More People Seek Genetic Testing, But There Aren't Enough Counselors,
by Todd Bookman, NPR, April 18, 2016 - Gene-Editing Technique Improves Immunotherapy,
GEN, April 18, 2016 - Pharmacogenomics Clinical Annotation Tool (PharmCAT),
the PharmGKB Blog, April 15, 2016 - Green light for Duchenne muscular dystrophy drug,
BBC News, April 15, 2016 - Generalized Anxiety Disorder: It’s Not My Fault,
by Rina Varley, National Society of Genetic Counselors, March 31, 2016 - Genetic influences on the risk of stroke,
Genomic Education Programme, April 18, 2016 - DNA analysis could help improve your workout: study,
by Edward Baran, Reuters, April 14, 2016 - Cracking the connection between genes and diet could lead to future heart disease treatments,
American Heart Association News, April 19, 2016
CDC-Authored Genomics Publications
- Development and Implementation of the ANISA Labeling and Tracking System for Biological Specimens.
Connor Nicholas E, Hossain Tanvir, Rahman Qazi Sadeq-Ur, Islam Mohammad Shahidul, Islam Maksuda, Hossain Belal, McGee Lesley, Diaz Maureen Helen, Schrag Stephanie J, Arifeen Shams El, Saha Samir K, The Pediatric infectious disease journal 2016 5 0. (5 Suppl 1) S29-34. - Implementation of Nationwide Real-Time Whole-Genome Sequencing to Enhance Listeriosis Outbreak Detection and Investigation.
Jackson Brendan R, Tarr Cheryl, Strain Errol, Jackson Kelly A, Conrad Amanda, Carleton Heather, Katz Lee S, Stroika Steven, Gould L Hannah, Mody Rajal K, Silk Benjamin J, Beal Jennifer, Chen Yi, Timme Ruth, Doyle Matthew, Fields Angela, Wise Matthew, Tillman Glenn, Defibaugh-Chavez Stephanie, Kucerova Zuzana, Sabol Ashley, Roache Katie, Trees Eija, Simmons Mustafa, Wasilenko Jamie, Kubota Kristy, Pouseele Hannes, Klimke William, Besser John, Brown Eric, Allard Marc, Gerner-Smidt Peter Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 4 0. . - Multiple-locus variable-number tandem repeat analysis for strain discrimination of non-O157 Shiga toxin-producing Escherichia coli.
Timmons Chris, Trees Eija, Ribot Efrain M, Gerner-Smidt Peter, LaFon Patti, Im Sung, Ma Li Maria Journal of microbiological methods 2016 4 0. . - Biological and Epidemiological Features of Antibiotic-Resistant Streptococcus pneumoniae in Pre- and Post-Conjugate Vaccine Eras: a United States Perspective.
Kim Lindsay, McGee Lesley, Tomczyk Sara, Beall Bernard Clinical microbiology reviews 2016 7 0. (3) 525-52. - The Next Generation of Risk Assessment Multiyear Study- Highlights of Findings, Applications to Risk Assessment and Future Directions.
Cote Ila, Andersen Melvin E, Ankley Gerald T, Barone Stanley, Birnbaum Linda S, Boekelheide Kim, Bois Frederic Y, Burgoon Lyle D, Chiu Weihsueh A, Crawford-Brown Douglas, Crofton Kevin M, DeVito Michael, Devlin Robert B, Edwards Stephen W, Guyton Kathryn Z, Hattis Dale, Judson Richard S, Knight Derek, Krewski Daniel, Lambert Jason, Maull Elizabeth Anne, Mendrick Donna, Paoli Gregory M, Patel Chirag Jagdish, Perkins Edward J, Poje Gerald, Portier Christopher J, Rusyn Ivan, Schulte Paul A, Simeonov Anton, Smith Martyn T, Thayer Kristina A, Thomas Russell S, Thomas Reuben, Tice Raymond R, Vandenberg John J, Villeneuve Daniel L, Wesselkamper Scott, Whelan Maurice, Whittaker Christine, White Ronald, Xia Menghang, Yauk Carole, Zeise Lauren, Zhao Jay, DeWoskin Robert S Environmental health perspectives 2016 4 0. . - Laboratory Methods for Determining Etiology of Neonatal Infection at Population-based Sites in South Asia: The ANISA Study.
Saha Samir K, Islam Mohammad Shahidul, Qureshi Shahida M, Hossain Belal, Islam Maksuda, Zaidi Anita K, Modak Joyanta K, Al-Emran Hasan M, Diaz Maureen H, McGee Lesley, Winchell Jonas M, The Pediatric infectious disease journal 2016 5 0. (5 Suppl 1) S16-22. - Etiological role and repeated infections of sapovirus among children aged less than two years in a cohort study in a peri-urban community of Peru.
Liu Xiaofang, Jahuira Helena, Gilman Robert H, Alva Alicia, Cabrera Lilia, Okamoto Michiko, Xu Hang, Windle Henry J, Kelleher Dermot, Varela Marco, Verastegui Manuela, Calderon Maritza, Sanchez Gerardo, Sarabia Vanessa, Ballard Sarah B, Bern Caryn, Mayta Holger, Crabtree Jean E, Cama Vitaliano, Saito Mayuko, Oshitani Hitoshi Journal of clinical microbiology 2016 4 0. . - Implementation of Nationwide Real-Time Whole-Genome Sequencing to Enhance Listeriosis Outbreak Detection and Investigation.
Jackson Brendan R, Tarr Cheryl, Strain Errol, Jackson Kelly A, Conrad Amanda, Carleton Heather, Katz Lee S, Stroika Steven, Gould L Hannah, Mody Rajal K, Silk Benjamin J, Beal Jennifer, Chen Yi, Timme Ruth, Doyle Matthew, Fields Angela, Wise Matthew, Tillman Glenn, Defibaugh-Chavez Stephanie, Kucerova Zuzana, Sabol Ashley, Roache Katie, Trees Eija, Simmons Mustafa, Wasilenko Jamie, Kubota Kristy, Pouseele Hannes, Klimke William, Besser John, Brown Eric, Allard Marc, Gerner-Smidt Peter Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 4 0. . - The spread of hepatitis C virus genotype 1a in North America: a retrospective phylogenetic study.
Joy Jeffrey B, McCloskey Rosemary M, Nguyen Thuy, Liang Richard H, Khudyakov Yury, Olmstead Andrea, Krajden Mel, Ward John W, Harrigan P Richard, Montaner Julio S G, Poon Art F Y The Lancet. Infectious diseases 2016 3 0. .
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