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
- Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.
Morel T et al. Orphanet journal of rare diseases 2016 11(1) 70 - The clinical utility of next-generation sequencing in the neonatal intensive care unit.
Bowdin Sarah C et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May - Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May - Clinical utility gene card for: Wolfram syndrome.
Moosajee Mariya et al. European journal of human genetics : EJHG 2016 May - Benefits and risks preferences for new medicines in rare diseases
S Ayme, Biomed Central Blog, May 27, 2016
Cancer
- FDA approves first blood test to detect gene mutation associated with non-small cell lung cancer
FDA, June 1, 2016 - Building and Validating Complex Models of Breast Cancer Risk.
Dupont William D et al. JAMA oncology 2016 May - Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States.
Maas Paige et al. JAMA oncology 2016 May - BRCA Share Database (formerly UMD-BRCA1 mutations database)
- Genetic counseling may change cancer outlook in families,
Djournal.com, May 27, 2016 - Development and clinical application of an integrative genomic approach to personalized cancer therapy.
Uzilov Andrew V et al. Genome medicine 2016 8(1) 62 - CANCER. The cancer predisposition revolution.
Malkin David et al. Science (New York, N.Y.) 2016 May 352(6289) 1052-3 - Validity of self-reported family history of cancer: A systematic literature review on selected cancers.
Fiederling Jonas et al. International journal of cancer 2016 May - Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.
Karakasis Katherine et al. Frontiers in oncology 2016 6119 - Data integration to prioritize drugs using genomics and curated data.
Louhimo Riku et al. BioData mining 2016 921 - Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.
Pinto Carmine et al. Future oncology (London, England) 2016 May - The Impact of Angelina Jolie (AJ)'s Story on Genetic Referral and Testing at an Academic Cancer Centre in Canada.
Raphael Jacques et al. Journal of genetic counseling 2016 May
Ethics, Policy and Law
- The risk of re-identification versus the need to identify individuals in rare disease research.
Hansson Mats G et al. European journal of human genetics : EJHG 2016 May - Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.
Hayeems Robin Z et al. Pediatrics 2016 May
Genomics in Practice
- MEDICINE. Paying for future success in gene therapy.
Orkin Stuart H et al. Science (New York, N.Y.) 2016 May 352(6289) 1059-61 - A smarter, more precise way to think about public health
Dr Sue Desmond-Hellmmann TED talk Video, 2016 - Chronic Kidney Disease - A Window into Understanding Health Disparities - Neil Powe
National Human Genome Research Institute Video lecture. April 2016 - Money back guarantees for non-reproducible results?
Topol Eric J et al. BMJ (Clinical research ed.) 2016 353i2770 - Opportunities and Challenges for Health Disparities Research in the Personal Genome Era
Carlos Bustamente, NHGRI video lecture, February 2016 - Biomarker Tests for Molecularly Targeted Therapies — The Key to Unlocking Precision Medicine
G Lyman et al, NEJM, June 1, 2016 - Direct-to-consumer genetic testing: Perspectives on its value in healthcare.
Delaney S K et al. Clinical pharmacology and therapeutics 2016 Feb 99(2) 146-8 - Soaring demand for genetic testing highlights need for streamlined data interpretation.
Hadjisavas Michael et al. MLO: medical laboratory observer 2016 Feb 48(2) 40-1 - The Relationship Between Burnout and Occupational Stress in Genetic Counselors.
Johnstone Brittney et al. Journal of genetic counseling 2016 May - Big data conference builds foundations for precision health
Stanford Medicine, May 2016 - A strategy for implementing genomics into nursing practice informed by three behaviour change theories.
Leach Verity et al. International journal of nursing practice 2016 May - Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Mandelker Diana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May - Assessment of Genomic Literacy Among Baccalaureate Nursing Students in the United States: A Feasibility Study.
Ward Linda D et al. Nurse educator 2016 May - Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation.
Davies Kurtis D et al. The Journal of molecular diagnostics : JMD 2016 May
Cardiovascular Diseases
- Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study.
Qureshi Nadeem et al. BMJ open 2016 6(5) e011734
Newborn Screening
- Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott Susan et al. Molecular genetics and metabolism 2016 May - Pubertal Height Growth and Adult Height in Cystic Fibrosis After Newborn Screening.
Zhang Zhumin et al. Pediatrics 2016 May 137(5)
Reproductive Health
- Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino Francesca et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 May 1-7 - Swedish healthcare providers' perceptions of preconception expanded carrier screening (ECS)-a qualitative study.
Matar A et al. Journal of community genetics 2016 May - The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
van der Steen S L et al. Journal of genetic counseling 2016 May
Pharmacogenomics
- Opioids: Can a Genetic Test Identify an Addict in the Making?
S Gupta. Medpage, May 29, 2016 - How does pharmacogenetic testing alter the treatment course and patient response for chronic-pain patients in comparison with the current "trial-and-error" standard of care?
DeFeo Kelly et al. Journal of the American Association of Nurse Practitioners 2014 Oct 26(10) 530-6 - Pharmacogenetics through a public health lens: from policy to practice.
Tan-Koi Wei-Chuen et al. Pharmacogenetics and genomics 2015 Oct 25(10) 518-20
News/Reviews/Commentaries
- Source material - Geneticists and historians need to work together on using DNA to explore the past,
Nature News, May 25, 2016 - New genetic test can spare patients chemo,
by Tom Corwin, the Augusta Chronicle, May 29, 2016 - Exclusive: Breast cancer gene database gives clearer picture of risk,
USA Today, June 1, 2016 - New funding to expand personalised medicine in Australia,
by Dr Philippa Brice, PHG Foundation, June 1, 2016 - Health, fortune telling and genome sequences,
by Mark Wanner, the Jackson Laboratory Blog, May 31, 2016 - New Institute of Medicine Report on Molecular Biomarkers.
Terry Sharon F Genetic testing and molecular biomarkers 2016 5 0. (5) 221-2. - What does scientific reproducibility mean, anyway?
StatNews, June 1, 2016 - Contextual sensitivity in scientific reproducibility.
Van Bavel Jay J, Mende-Siedlecki Peter, Brady William J, Reinero Diego A Proceedings of the National Academy of Sciences of the United States of America 2016 5 0. . - A Genetic Clue to Kidney Disease in Children,
by Kevin Joy, University of Michigan Lab Blog, May 27, 2016 - Editing our genes to cure — not just treat — disease,
by Meg Tirrell, CNBC, May 27, 2016 - Researchers develop technology for printed personalised medicine,
by Victoria White, European Pharmaceutical Review, May 26, 2016 - Mount Sinai researchers report clinical utility of personalized medicine program for cancer patients,
EurekAlert, June 1, 2016
Events
- White House and Gates Foundation to Convene Precision Public Health Summit at UCSF,
by Lisa Cisneros, University of California San Francisco, May 27, 2016
CDC-Authored Genomics Publications
- Origin and spread of HIV-1 in persons who inject drugs in Bulgaria.
Alexiev Ivailo, Shankar Anupama, Dimitrova Reneta, Gancheva Anna, Kostadinova Asia, Teoharov Pavel, Golkocheva Elitsa, Nikolova Maria, Muhtarova Mariya, Elenkov Ivaylo, Stoycheva Mariyana, Nikolova Daniela, Varleva Tonka, Switzer William M Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2016 5 0. . - The Philadelphia Glaucoma Detection and Treatment Project: Detection Rates and Initial Management.
Waisbourd Michael, Pruzan Noelle L, Johnson Deiana, Ugorets Angela, Crews John E, Saaddine Jinan B, Henderer Jeffery D, Hark Lisa A, Katz L Jay Ophthalmology 2016 5 0. . - Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.
Flygare Steven, Simmon Keith, Miller Chase, Qiao Yi, Kennedy Brett, Di Sera Tonya, Graf Erin H, Tardif Keith D, Kapusta Aurélie, Rynearson Shawn, Stockmann Chris, Queen Krista, Tong Suxiang, Voelkerding Karl V, Blaschke Anne, Byington Carrie L, Jain Seema, Pavia Andrew, Ampofo Krow, Eilbeck Karen, Marth Gabor, Yandell Mark, Schlaberg Robert Genome biology 2016 0 0. (1) 111. - Genomic and Phenotypic Analysis Reveal the Emergence of an Atypical Salmonella Senftenberg Variant in China.
Abd El Ghany Moataz, Shi Xiaolu, Li Yinghui, Ansari Hifzur R, Hill-Cawthorne Grant A, Ho Yung Shwen, Naeem Raeece, Pickard Derek, Klena John D, Xu Xuebing, Pain Arnab, Hu Qinghua Journal of clinical microbiology 2016 5 0. . - Sentinel Surveillance for Influenza among Severe Acute Respiratory Infection and Acute Febrile Illness Inpatients at Three Hospitals in Ghana.
Jones Alexander H, Ampofo William, Akuffo Richard, Doman Brooke, Duplessis Christopher, Amankwa Joseph A, Sarpong Charity, Sagoe Ken, Agbenohevi Prince, Puplampu Naiki, Armah George, Koram Kwadwo A, Nyarko Edward Owusu, Bel-Nono Samuel, Dueger EricaL Influenza and other respiratory viruses 2016 5 0. . - Molecular characterization of the first G24P[14] rotavirus strain detected in humans.
Ward M Leanne, Mijatovic-Rustempasic Slavica, Roy Sunando, Rungsrisuriyachai Kunchala, Boom Julie A, Sahni Leila C, Baker Carol J, Rench Marcia A, Wikswo Mary E, Payne Daniel C, Parashar Umesh D, Bowen Michael D Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2016 5 0. .
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