Health Impact Weekly Scan
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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
- Parents' interest in genetic testing of their offspring in multiplex epilepsy families.
Caminiti Courtney B et al. Epilepsia 2015 Dec - Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim Eileen C P et al. Human genomics 2015 9(1) 33 - Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537
Cancer
- Ovarian cancer screening and mortality in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial.
Jacobs Ian J et al. Lancet (London, England) 2015 Dec - Recommendations from the EGAPP Working Group: does the use of Oncotype DX tumor gene expression profiling to guide treatment decisions improve outcomes in patients with breast cancer?
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec - Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety-net institution.
Komenaka Ian K et al. Journal of community genetics 2015 Dec - Race and colorectal cancer screening compliance among persons with a family history of cancer.
Laiyemo Adeyinka O et al. World journal of gastrointestinal endoscopy 2015 Dec 7(18) 1300-5 - SEOM clinical guidelines in Hereditary Breast and ovarian cancer.
Llort G et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2015 Dec 17(12) 956-61 - ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes.
Zhao Min et al. Human mutation 2015 Dec - Determining the familial risk distribution of colorectal cancer: a data mining approach.
Chau Rowena et al. Familial cancer 2015 Dec - Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Susswein Lisa R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec - Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
Yablonski-Peretz Tamar et al. Breast cancer research and treatment 2015 Dec - Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome.
de Freitas Isabella Nicácio et al. Journal of gastrointestinal oncology 2015 Dec 6(6) 628-37 - Breast cancer risk prediction using clinical models and 77 independent risk-associated SNPs for women aged under 50 years: Australian Breast Cancer Family Registry.
Dite Gillian S et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2015 Dec - Genetic testing in a cohort of young patients with HER2 amplified breast cancer.
Eccles D M et al. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2015 Dec - Surgical Decision Making in the BRCA-Positive Population: Institutional Experience and Comparison with Recent Literature.
Flippo-Morton Teresa et al. The breast journal 2015 Dec - Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.
Gronwald Jacek et al. Fertility and sterility 2015 Dec - Cost effectiveness of personalized treatment in women with early breast cancer: the application of OncotypeDX and Adjuvant! Online to guide adjuvant chemotherapy in Austria.
Jahn B et al. SpringerPlus 2015 4752
Chronic Diseases
- Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi Thalia et al. BMC medical genetics 2015 1684 - Genetic counselling in a national referral centre for pulmonary hypertension.
Girerd Barbara et al. The European respiratory journal 2015 Dec
Ethics, Policy and Law
- The Gene Pool: The Ethics of Genetics in Primary Care.
Whitt Karen J et al. Annual review of nursing research 2016 34(1) 119-54 - Balancing Benefits and Risks of Immortal Data: Participants' Views of Open Consent in the Personal Genome Project.
Zarate Oscar A et al. The Hastings Center report 2015 Dec
Genomics in Practice
- Integrating electronic health record genotype and phenotype datasets to transform patient care.
Roden Dan M et al. Clinical pharmacology and therapeutics 2015 Dec - Direct-to-consumer Genetic Testing: Changes in the EU Regulatory Landscape.
Slokenberga Santa et al. European journal of health law 2015 Dec 22(5) 463-80 - Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec - Perspectives on Translational Genomics and Public Health in India.
Chakrabarty Sanjiban et al. Public health genomics 2015 Dec - Ob-Gyns Oppose Payer Restrictions Limiting Patient Access to Genetic Testing,
ACOG, December 17, 2015 - Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.
Christensen Kurt D et al. Journal of personalized medicine 2015 5(4) 470-86 - Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.
Covolo Loredana et al. Journal of medical Internet research 2015 17(12) e279 - Building International Genomics Collaboration for Global Health Security.
Cui Helen H et al. Frontiers in public health 2015 3264 - Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
Taruscio Domenica et al. Molecular genetics and metabolism 2015 Dec 116(4) 223-5
Newborn Screening
- Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
Grosse Scott D et al. Healthcare (Basel) 3(4) 1133-1157 - Insights in Public Health: Newborn Screening Saves Babies Using Public/Private Partnerships.
Mann Sylvia et al. Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public Health 2015 Dec 74(12) 415-8 - Newborn bloodspot screening for cystic fibrosis: What do antenatal and postnatal women know about cystic fibrosis?
Fitzgerald C et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2015 Dec - Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer Jana et al. Journal of inherited metabolic disease 2015 Dec - Parental Experience of Information and Education Processes Following Diagnosis of Their Infant With Cystic Fibrosis Via Newborn Screening.
Jessup Melanie et al. Journal of pediatric nursing 2015 Dec
Reproductive Health
- Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
Lew Raelia M et al. Journal of paediatrics and child health 2015 Mar 51(3) 271-9 - Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.
Lo Kitty K et al. American journal of human genetics 2015 Dec - Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.
Minarik Gabriel et al. PloS one 2015 10(12) e0144811 - Reproductive decision-making among individuals at risk for familial amyotrophic lateral sclerosis.
Hartzfeld Deborah E H et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2015 Mar 16(1-2) 114-9 - The Iran Thalassemia Prevention Program: Success or Failure?
Hashemieh M et al. Iranian journal of pediatric hematology and oncology 2015 5(3) 161-6
Pharmacogenomics
- Pharmacogenetics-Based versus Conventional Dosing of Warfarin: A Meta-Analysis of Randomized Controlled Trials.
Shi Changcheng et al. PloS one 2015 10(12) e0144511 - Pharmacogenomic Information in FDA-Approved Drug Labels: Application to Pediatric Patients.
Green Dionna J et al. Clinical pharmacology and therapeutics 2015 Dec - Evaluation of the incremental prognostic value of the combination of CYP2C19 poor metabolizer status and ABCB1 3435 TT polymorphism over conventional risk factors for cardiovascular events after drug-eluting stent implantation in East Asians.
Park Mahn-Won et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
News/Reviews/Commentaries
- When Cancer of Unknown Origin Strikes, Family Members Are At Increased Risk,
Huntsman Cancer Institute at the University of Utah, December 17, 2015 - Whole Genome Sequencing,
by Jeffrey Briggs, Individualized Medicine Blog, Mayo Clinic, December 24, 2015 - 365 days: The science events that shaped 2015,
Baker M, et al. Nature News, December 17, 2015 - Microbiome analysis: How one tech company is changing health behaviors, one fecal sample at a time,
by Amy Talbott, Tech Republic, December 24, 2015 - Genetic engineering’s new frontier,
by Bradley J. Fikes, Washington Post, December 21, 2015 - Genome Canada Celebrates 15 Years of Research and Innovation,
Genome Canada, December 9, 2015 - Genomics Can Improve Health Care--Right Now,
by Kevin A. Strauss, Scientific American, December 1, 2015 - DNA folding important for understanding genome,
by Catharine Paddock PhD, Medical News Today, December 24, 2015 - Obesity: how much is in the genes?
By Yvette Brazier, Medical News Today, December 26, 2015 - Non-invasive early colorectal cancer detection in under an hour?
ECancer News, December 24, 2015 - OB-GYN Groups Say Insurers' Genetic Testing Rules Limit Access to Care,
by Mary K. Caffrey, AJMC, December 22, 2015 - Why CRISPR-Cas9 is being hailed as the scientific "Breakthrough of the Year",
by Deborah Netburn, Los Angeles Times, December 20, 2015 - Do stress factors alter DNA methylation during aging?
By Anthony Zannas, BioMed Central, December 17, 2015 - 5 terrible illnesses that genetic engineering could eliminate forever,
by Lauren F Friedman, Tech Insider, December 24, 2015 - Five Game-Changing Advances in Cardiology in 2015: PCSK9s Approved,
by Roger Sergel, Medpage Today, December 23, 2015 - The best gift your family can give you this holiday,
by Mary Brophy Marcus, CBS News, December 24, 2015 - Review: ‘Too Much of a Good Thing’ Finds a Dilemma in Our DNA,
by Abigal Zuger, M.D., New York Times, December 28, 2015 - Update: Direct-to-Consumer Genetic Testing,
by John Gever, Medpage Today, December 28, 2015 - The science — or lack of it — behind genetic tests offered in the workplace,
by David Shaywitz, American Enterprise Institute, December 18, 2015 - Discovering new diseases on a diagnostic odyssey,
by Emily Siner, Newsworks, December 28, 2015 - Study of Cancer Germline Test Results From 10,000 Patients Highlights Utility of NGS Panels,
Genome Web, December 18, 2015 [by free subscription only] - Technology Improvements, Long Reads Lead NGS Market Advancements in 2015,
Genome Web, December 28, 2015 [by free subscription only] - Early Detection of Ovarian Cancer May Become Possible,
by Denise Grady, New York Times, December 17, 2015
CDC-Authored Genomics Publications
- Precision Diagnosis Is a Team Sport.
Zehnbauer Barbara A, Buchman Timothy G Critical care medicine 2016 1 0. (1) 229-30. - Precision Diagnosis Is a Team Sport.
Zehnbauer Barbara A, Buchman Timothy G The Journal of molecular diagnostics : JMD 2016 1 0. (1) 1-2. - Next-Generation Sequencing Reveals Frequent Opportunities for Exposure to Hepatitis C Virus in Ghana.
Forbi Joseph C, Layden Jennifer E, Phillips Richard O, Mora Nallely, Xia Guo-Liang, Campo David S, Purdy Michael A, Dimitrova Zoya E, Owusu Dorcas O, Punkova Lili T, Skums Pavel, Owusu-Ofori Shirley, Sarfo Fred Stephen, Vaughan Gilberto, Roh Hajung, Opare-Sem Ohene K, Cooper Richard S, Khudyakov Yury E PloS one 2015 0 0. (12) e0145530. - Independent Emergence of the Plasmodium Falciparum Kelch Propeller Domain Mutant Allele C580Y in Guyana.
Chenet Stella M, Akinyi Okoth Sheila, Huber Curtis S, Chandrabose Javin, Lucchi Naomi W, Talundzic Eldin, Krishnalall Karanchand, Ceron Nicolas, Musset Lise, Macedo de Oliveira Alexandre, Venkatesan Meera, Rahman Reyaud, Barnwell John W, Udhayakumar Venkatachalam The Journal of infectious diseases 2015 12 0. . - Outbreaks of Salmonellosis From Small Turtles.
Walters Maroya Spalding, Simmons Latoya, Anderson Tara C, DeMent Jamie, Van Zile Kathleen, Matthias Laura P, Etheridge Sonia, Baker Ronald, Healan Cheryl, Bagby Rita, Reporter Roshan, Kimura Akiko, Harrison Cassandra, Ajileye Kadri, Borders Julie, Crocker Kia, Smee Aaron, Adams-Cameron Meg, Joseph Lavin A, Tolar Beth, Trees Eija, Sabol Ashley, Garrett Nancy, Bopp Cheryl, Bosch Stacey, Behravesh Casey Barton Pediatrics 2015 12 0. . - Clinical utility of genetic and genomic services: context matters.
Dotson W David, Bowen M Scott, Kolor Katherine, Khoury Muin J Genetics in medicine : official journal of the American College of Medical Genetics 2015 12 0. . - Complete Genome Sequences for Two Strains of a Novel Fastidious, Partially Acid-Fast, Gram-Positive Corynebacterineae Bacterium, Derived from Human Clinical Samples.
Nicholson Ainsley C, Bell Melissa, Humrighouse Ben W, McQuiston John R Genome announcements 2015 0 0. (6) . - Genetic diversity of Plasmodium falciparum parasite by microsatellite markers after scale-up of insecticide-treated bed nets in western Kenya.
Gatei Wangeci, Gimnig John E, Hawley William, Ter Kuile Feiko, Odero Christopher, Iriemenam Nnaemeka C, Shah Monica P, Howard Penelope Phillips, Omosun Yusuf O, Terlouw Dianne J, Nahlen Bernard, Slutsker Laurence, Hamel Mary J, Kariuki Simon, Walker Edward, Shi Ya Ping Malaria journal 2014 0 0. 495. - Clonal population expansion in an outbreak of Plasmodium falciparum on the northwest coast of Ecuador.
Sáenz Fabián E, Morton Lindsay C, Okoth Sheila Akinyi, Valenzuela Gabriela, Vera-Arias Claudia A, Vélez-Álvarez Eileen, Lucchi Naomi W, Castro L Enrique, Udhayakumar Venkatachalam Malaria journal 2014 0 0. 497. - Genome Sequences of Oblitimonas alkaliphila gen. nov. sp. nov. (Proposed), a Novel Bacterium of the Pseudomonadaceae Family.
Lauer Ana C, Nicholson Ainsley C, Humrighouse Ben W, Emery Brian, Drobish Adam, Juieng Phalasy, Loparev Vladimir, McQuiston John R Genome announcements 2015 0 0. (6) . - Complete Genome Sequences of Two Shiga Toxin-Producing Escherichia coli Strains from Serotypes O119:H4 and O165:H25.
Lindsey Rebecca L, Knipe Kristen, Rowe Lori, Garcia-Toledo Lisley, Loparev Vladimir, Juieng Phalasy, Trees Eija, Strockbine Nancy, Stripling Devon, Gerner-Smidt Peter Genome announcements 2015 0 0. (6) . - Study of viremic profile in febrile specimens of chikungunya in Bandung, Indonesia.
Riswari S F, Ma'roef C N, Djauhari H, Kosasih H, Perkasa A, Yudhaputri F A, Artika I M, Williams M, van der Ven A, Myint K S, Alisjahbana B, Ledermann J P, Powers A M, Jaya U A Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 2015 11 0. 61-65. - Role of Epithelial-Mesenchyme Transition in Chlamydia Pathogenesis.
Igietseme Joseph U, Omosun Yusuf, Stuchlik Olga, Reed Matthew S, Partin James, He Qing, Joseph Kahaliah, Ellerson Debra, Bollweg Brigid, George Zenas, Eko Francis O, Bandea Claudiu, Liu Hsi, Yang Genyan, Shieh Wun-Ju, Pohl Jan, Karem Kevin, Black Carolyn M PloS one 2015 0 0. (12) e0145198.
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