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
- Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
Lim ECP, et al. Human Genomics 2015 9:33
Cancer
- DriverDBv2: a database for human cancer driver gene research.
Chung I-Fang et al. Nucleic acids research 2015 Dec - Genetic heterogeneity in synchronous colorectal cancers impacts genotyping approaches and therapeutic strategies.
Jesinghaus Moritz et al. Genes, chromosomes & cancer 2015 Dec - Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes.
Wang Qing et al. Acta pharmacologica Sinica 2015 Nov
Ethics, Policy and Law
- Family tree and ancestry inference: is there a need for a 'generational' consent?
Wallace Susan E et al. BMC medical ethics 2015 16(1) 87
Genomics in Practice
- Personalized medicine beyond genomics: alternative futures in big data-proteomics, environtome and the social proteome.
Özdemir Vural et al. Journal of neural transmission (Vienna, Austria : 1996) 2015 Dec
Cardiovascular Diseases
- High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
Collet M, et al. European Journal of Human Genetics 16 December 2015 - Finding the Right Price for Improving Care
Charlton B JAMA Intern Med. 2015 December 14 - Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibitors for Treatment of High Cholesterol Levels
Tice JA, et al. JAMA Intern Med. 2015 Dec 14
Newborn Screening
- Effect of Dried Bloodspot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis.
George Roanna S et al. Clinical chemistry 2015 Dec
News/Reviews/Commentaries
- Wondering if you have the gene linked to Alzheimer’s? You may have to leave the U.S. to find out,
by Peter Whoriskey, Washington Post, December 7, 2015 - Do you think you’ll live to be 100? The answer may be in your genes.
By Marlene Cimons, Washington Post, December 14, 2015 - Clinical Genetics Has a Big Problem That's Affecting People's Lives,
by Ed Yong, the Atlantic, December 16, 2015 - Data sharing to support UK clinical genetics and genomics services,
PHG Foundation, December 16, 2015 - Screening healthy women for ovarian cancer shows first success,
by Sharon Begley, STAT, December 17, 2015 - A single gene spawning multiple disorders: Guoping Feng on Shank3 in autism, schizophrenia,
by Veronica Meade-Kelly, Broad Institute, December 10, 2015 - A glimpse into the future of genome sequencing,
CNBC, December 10, 2015 - 5 amazing and alarming things that may be done with your DNA,
by Matt McFarland, Washington Post, December 14, 2015 - Genomic Sequencing: Just Another Tool in the Doctor's Bag,
by Robert C. Green, Huffington Post, December 12, 2015 - Pursuing Precision Medicine for Chronic Kidney Disease,
by Francis Collins, NIH Director's Blog, December 15, 2015 - Two More Companies Questioned by FDA Over DTC Genetic Tests,
by Michael Mezher, Regulatory Affairs Professional Society, December 11, 2015 - Will DNA Tests Finally Settle Controversy Surrounding Russia's Last Czars?
By Corey Flintoff, NPR, December 13, 2015 - Bringing genetic background into focus
Chow CY Nature Reviews Genetics 2015 Dec 14 - 'Your child is one in a million': Rare cholesterol condition poses surprise threat,
by Patti Borda Mullins, Frederick News-Post, December 15, 2015 - Responsible, proportionate data sharing for better and safer genetic services,
PHG Foundation, December 16, 2015 - How Much Does Genetics Really Affect Your Fitness?
By Beth Skwarecki, Vitals, December 10, 2015 - Melanoma Researchers at Mayo Clinic Say Odds Continually Improving for Patients,
by Jeffrey Briggs, Mayo Clinic, December 16, 2015 - Researchers identify mechanism behind treatment for rare brain disorder,
Intramural Research Program, NIH, December 9, 2015 - NIH Director: For Obesity, There’s No Magic Pill, Yet,
Here & now, December 9, 2015 - Bit data reconfirms accuracy of Oncotype DX breast cancer test,
by Victoria White, European Pharmaceutical Review, December 15, 2015 - A Review of SynBio 2015,
by Steven Burgess, Plos Blogs, December 15, 2015 - Using Big Data to Make Wiser Medical Decisions,
by John D, Halamka, Harvard Business Review, December 14, 2015 - How genetic heritage explains obesity,
by Suzanne Koven, Boston Globe, December 14, 2015
Events
- Seminar Series - A Quarter Century after the Human Genome Project's Launch: Lessons Beyond the Base Pairs
December 2015 - May 2015 ~ Bethesda, MD
CDC-Authored Genomics Publications
- Presence of an epigenetic signature of prenatal cigarette smoke exposure in childhood.
Ladd-Acosta Christine, Shu Chang, Lee Brian K, Gidaya Nicole, Singer Alison, Schieve Laura A, Schendel Diana E, Jones Nicole, Daniels Julie L, Windham Gayle C, Newschaffer Craig J, Croen Lisa A, Feinberg Andrew P, Daniele Fallin M Environmental research 2016 1 0. (Pt A) 139-148. - Human papillomavirus genotype and oropharynx cancer survival in the United States of America.
Goodman Marc T, Saraiya Mona, Thompson Trevor D, Steinau Martin, Hernandez Brenda Y, Lynch Charles F, Lyu Christopher W, Wilkinson Edward J, Tucker Thomas, Copeland Glenn, Peters Edward S, Altekruse Sean, Unger Elizabeth R European journal of cancer (Oxford, England : 1990) 2015 12 0. (18) 2759-67. - Enhanced Diagnosis of Pneumococcal Bacteremia Using Antigen- and Molecular-Based Tools on Blood Specimens in Mali and Thailand: A Prospective Surveillance Study.
Moïsi Jennifer C, Moore Matthew, Carvalho Maria da Gloria, Sow Samba O, Siludjai Duangkamon, Knoll Maria Deloria, Tapia Milagritos, Baggett Henry C, The American journal of tropical medicine and hygiene 2015 12 0. . - De novo transcriptome reconstruction and annotation of the Egyptian rousette bat.
Lee Albert K, Kulcsar Kirsten A, Elliott Oliver, Khiabanian Hossein, Nagle Elyse R, Jones Megan E B, Amman Brian R, Sanchez-Lockhart Mariano, Towner Jonathan S, Palacios Gustavo, Rabadan Raul BMC genomics 2015 0 0. 1033.
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