Human Genomics across the Lifespan
About Health Impact Weekly Scan
This weekly update features emerging role 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
Cancer
- Detection of DNA repair protein in colorectal cancer of patients up to 50 years old can increase the identification of Lynch syndrome?
Germini Demétrius Eduardo, et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015 9 0. - Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study.
Landon Michelle, et al. Oncology 2015 0 0. (4) 221-6 - The Angelina effect revisited: Exploring a media-related impact on public awareness.
Lebo Patricia Beatrice, et al. Cancer 2015 9 0. - Prospective validation of a 21-gene expression assay in breast cancer
Sparano JA New England Journal of Medicine - Impact of a Nurse Navigator on Genomic Testing and Timely Treatment Decision Making in Patients With Breast Cancer.
McAllister Kelly A, et al. Clinical journal of oncology nursing 2015 10 0. (5) 510-512 - Impact of a Genomic Classifier of Metastatic Risk on Postprostatectomy Treatment Recommendations by Radiation Oncologists and Urologists.
Nguyen Paul L, et al. Urology 2015 7 0. (1) 35-40 - Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland.
O'Shea Rosie, et al. Journal of genetic counseling 2015 9 0. - An evaluation and recommendation of the optimal methodologies to detect RET gene rearrangements in papillary thyroid carcinoma.
Zhang Tianwei, et al. Genes, chromosomes & cancer 2015 3 0. (3) 168-76 - A genetic-based approach to individualized prostate cancer screening and treatment
Brendler CB Personalized Medicine in Oncology August 2015, Vol 4, No 4 - Impact of updated HER2 testing guidelines in breast cancer-re-evaluation of HERA trial fluorescence in situ hybridization data.
Stoss Oliver C, et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 9 0.
Chronic Diseases
- Familial hypercholesterolaemia: A global call to arms
Vallejo-Vaz AJ, et al. Atherosclerosis 2015 September 17 - Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history.
Tada Hayato, et al. European heart journal 2015 9 0. - Familial hypercholesterolaemia: A global call to arms.
Vallejo-Vaz Antonio J, et al. Atherosclerosis 2015 9 0. (1) 257-259
Ethics, Policy and Law
- Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies.
Breveglieri Giulia, et al. Expert opinion on therapeutic patents 2015 9 0. 1-24
Genomics in Practice
- BIOMEDICINE. NIH opens precision medicine study to nation.
Kaiser Jocelyn, et al. Science (New York, N.Y.) 2015 9 0. (6255) 1433 - Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status.
Khan Cynthia M, et al. European journal of human genetics : EJHG 2015 9 0. - An evaluation of regulatory and commercial barriers to stratified medicine development and adoption.
Meadows N A, et al. The pharmacogenomics journal 2015 2 0. (1) 6-12 - Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing.
Mack Steven J, et al. Human immunology 2015 9 0.
Reproductive Health
- Reproductive Decision-Making in MMR Mutation Carriers After Results Disclosure: Impact of Psychological Status in Childbearing Options.
Duffour Jacqueline, et al. Journal of genetic counseling 2015 9 0. - Clinical Experience with Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening for 22q11.2 Deletion Syndrome.
Gross Susan J, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 9 0. - Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.
Leiva Portocarrero Maria Esther, et al. BMC medical informatics and decision making 0 0 0. (1) 76 - Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013.
Maxwell Susannah, et al. Prenatal diagnosis 2015 9 0. - Informed Choice for Participation in Down Syndrome Screening: Development and Content of a Web-Based Decision Aid.
Skjøth Mette Maria, et al. JMIR research protocols 2015 0 0. (3) e113
Reproductive Health
- A Global Health Diagnostic for Personalized Medicine in Resource-Constrained World Settings: A Simple PCR-RFLP Method for Genotyping CYP2B6 g.15582C>T and Science and Policy Relevance for Optimal Use of Antiretroviral Drug Efavirenz.
Evans Jonathan, et al. Omics : a journal of integrative biology 2015 6 0. (6) 332-338 - PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.
Alvarellos Maria L, et al. Pharmacogenetics and genomics 2015 9 0.
News/Reviews/Commentaries
- Breast cancer gene test helps predict who can skip chemo,
by Michaeleen Doucleff, NPR, September 28, 2015 - Who has your DNA—or wants it,
by Jocelyn Kaiser, Center for Genetics and Society, September 25, 2015 - Why precision medicine threatens population health,
Common Sense Family Doctor Blog, September 1, 2015 - Genetic Testing in Newborns Gets a Critical Breakthrough,
by Alice Park, Time, September 29, 2015 - Familial hypercholesterolemia: The common, inherited cause of heart disease rarely talked about,
by Amy Sturm, National Society of Genetic Counselors, September 24, 2015 - Precision Medicine: Much More Than Just Genetics,
by Ricki Lewis, DNA Science Blog, September 24, 2015 - The high cost-and difficult ethics-of personalized medicine,
Wall Street Journal Blog Post, September 26, 2015 - Rare 'healthy' smokers' lungs explained,
by James Gallagher, BBC News, September 28, 2015 - NHS strategy for personalised medicine revealed,
by Dr Philippa Brice, PHG Foundation, September 26, 2015 - The FDA thinks Pathway Genomics' cancer blood test could be harmful,
by Arielle Duhaime-Ross, the Verge, September 24, 2015 - Popular gene-editing technique gets sharper molecular scissors,
by Elizabeth Pennisi, Science News, September 25, 2015 - Big Data, Genetics, and Re-Identification,
by Zachary Shapiro, Harvard Law Blog, September 24, 2015 - NIH head Francis Collins on new efforts to use medical records of volunteers to treat diseases,
the Diane Rehm Show, September 28, 2015 - When genome sequencing tells too much, doctors may have to keep secrets,
by Samantha Olson, Medical Daily, September 28, 2015 - Cardiac genomics: putting research into practice,
Genomic Education Programme, September 28, 2015 - Gene test finds which breast cancer patients can skip chemo,
by Marilynn Marchione, SF Gate, September 28, 2015
Funding Opportunities
- Collaborative research in genomics, epigenomics, and bioinformatics in gynecologic health and disease (R01)
- Collaborative research in genomics, epigenomics, and bioinformatics in gynecologic health and disease (R21)
- NIH earmarks $2M to fund genomic, epigenomic studies of gynecologic disorders,
Genome Web, September 25, 2015 [by free subscription only]
CDC-Authored Genomics Publications
- In vitro and molecular surveillance for antimalarial drug resistance in Plasmodium falciparum parasites in western Kenya reveals sustained artemisinin sensitivity and increased chloroquine sensitivity.
Lucchi Naomi W, Komino Franklin, Okoth Sheila Akinyi, Goldman Ira, Onyona Philip, Wiegand Ryan E, Juma Elizabeth, Shi Ya Ping, Barnwell John W, Udhayakumar Venkatachalam, Kariuki Simon Antimicrobial agents and chemotherapy 2015 9 0. . - Comparison of Whole-Genome Sequencing and Molecular-Epidemiological Techniques for Clostridium difficile Strain Typing.
Dominguez Samuel R, Anderson Lydia J, Kotter Cassandra V, Littlehorn Cynthia A, Arms Lesley E, Dowell Elaine, Todd James K, Frank Daniel N Journal of the Pediatric Infectious Diseases Society 2015 4 0. . - Collaborative Effort for a Centralized Worldwide Tuberculosis Relational Sequencing Data Platform.
Starks Angela M, Avilés Enrique, Cirillo Daniela M, Denkinger Claudia M, Dolinger David L, Emerson Claudia, Gallarda Jim, Hanna Debra, Kim Peter S, Liwski Richard, Miotto Paolo, Schito Marco, Zignol Matteo Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2015 10 0. (suppl 3) S141-S146. - Evaluation of selected Borrelia burgdorferi lp54 encoded gene products expressed during mammalian infection as antigens to improve serodiagnostic testing for early Lyme disease.
Weiner Zachary P, Crew Rebecca M, Brandt Kevin S, Ullmann Amy J, Schriefer Martin E, Molins Claudia R, Gilmore Robert D Clinical and vaccine immunology : CVI 2015 9 0. . - Longitudinal Detection and Persistence of Minority Drug-Resistant Populations and Their Effect on Salvage Therapy.
Nishizawa Masako, Matsuda Masakazu, Hattori Junko, Shiino Teiichiro, Matano Tetsuro, Heneine Walid, Johnson Jeffrey A, Sugiura Wataru PloS one 2015 0 0. (9) e0135941. - When is genomic testing cost-effective? Testing for Lynch syndrome in patients with newly-diagnosed colorectal cancer and their relatives
Grosse, SC Healthcare 2015, 3(4), 860-878 - Generation and Characterization of Live Attenuated Influenza A(H7N9) Candidate Vaccine Virus Based on Russian Donor of Attenuation.
Shcherbik Svetlana, Pearce Nicholas, Balish Amanda, Jones Joyce, Thor Sharmi, Davis Charles Todd, Pearce Melissa, Tumpey Terrence, Cureton David, Chen Li-Mei, Villanueva Julie, Bousse Tatiana L PloS one 0 0 0. (9) e0138951.
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