Published on 04/06/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Autism: Why Act Early?
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Development of a 22q11DS psycho-educational programme: exploration of the views, concerns and educational needs of parents caring for children or adolescents with 22q11DS in relation to mental health issues.
Alugo T et al. Child: care, health and development 2017 Mar -
Where lost diseases go.
Proto Magazine, March 2017 -
Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
Kodra Yllka et al. Annali dell'Istituto superiore di sanita 52(3) 428-433
Cancer
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Living With Lynch syndrome: The Emotional Rollercoaster
by Guest Blogger Kristen Lummis, April 1, 2017 -
Beyond genomics: Using proteomics to target tumors
Fred Hutchinson Cancer Center, March 2017 -
No, We Cant Say Whether Cancer Is Mostly Bad Luck
How some media outlets magnified the problems with a controversial new paper
Ed Yong, the Atlantic. March 2017 -
Racial and Ethnic Disparities in Gene-Expression Profiling Tests in Breast Cancer
ASCO POST, March 31, 2017 -
New study finds that most cancer mutations are due to random DNA copying mistakes
Science Magazine, March 2017 -
Random Mutations Play Major Role in Cancer
NIH Director Blog, April 4,2017 -
DNA typos to blame for most cancer mutations
Environment and heredity might not contribute as much to cancer risk as researchers thought.
H Ledford, Nature News, March 2017 -
Telomere length predicts cancer risk
Science Magazine, April 3, 2017 -
Health Disparities and Triple-Negative Breast Cancer in African American Women: A Review.
Newman Lisa A et al. JAMA surgery 2017 Mar -
Longitudinal cancer risk management trajectories of BRCA1/2 mutation-positive reproductive-age women.
Young Jennifer Louise et al. Journal of psychosocial oncology 2017 Feb 1-16 -
StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.
Sen Manimala et al. Cancer medicine 2017 Apr -
A shot against cancer?
Genome Magazine, March 2017 -
Genetic Counseling for Cancer Where you Least Expect It
J Larsen Haidle, NSGC Blog Post, March 2017 -
Expanding Lynch Syndrome Screening: From Research to Reality
View NCI R2R Webinar 1-hour presentation -
Insights into BRCA1/2 Genetic Counseling from Ethnically Diverse Latina Breast Cancer Survivors.
Rajpal Neha et al. Journal of genetic counseling 2017 Apr -
Genetic testing for hereditary breast cancer in Asia-moving forward.
Kwong Ava et al. Chinese clinical oncology 2016 Jun 5(3) 47 -
A meta-analysis of the diagnostic value of detecting K-ras mutation in pancreatic juice as a molecular marker for pancreatic cancer.
Yang Jing et al. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 16(4) 605-14 -
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.
Ross Jessica et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar -
Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types.
Shu Yongqian et al. Scientific reports 2017 Apr 7(1) 583 -
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.
Durno Carol et al. Gastroenterology 2017 Mar -
Endocrine therapy initiation, discontinuation and adherence and breast imaging among 21-gene recurrence score assay-eligible women under age 65.
O'Neill Suzanne C et al. Breast cancer research : BCR 2017 Mar 19(1) 45 -
Individual Patient-Level Meta-Analysis of the Performance of the Decipher Genomic Classifier in High-Risk Men After Prostatectomy to Predict Development of Metastatic Disease.
Spratt Daniel E et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Mar JCO2016702811 -
Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.
Lumish Heidi S et al. Journal of genetic counseling 2017 Mar -
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
de Unamuno Bustos Blanca et al. Scientific reports 2017 Mar 7(1) 495 -
Genetic profiling of MYC and BCL2 in diffuse large B-cell lymphoma determines cell of origin-specific clinical impact.
Ennishi Daisuke et al. Blood 2017 Mar -
Routine genetic testing of lung cancer specimens derived from surgery, bronchoscopy and fluid aspiration by next generation sequencing.
Yamamoto Gou et al. International journal of oncology 2017 Mar -
Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome.
Al-Nawaiseh Ibrahim et al. Journal of ophthalmology 2017 20175053961
Chronic Disease
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National Amyotrophic lateral sclerosis (ALS) Registry -- Impact, Challenges, and Future Directions
CDC Public Health Grand Rounds, April 18, 2017 -
Systematic review and meta-analysis of genetic studies of late-life depression.
Tsang Ruby S M et al. Neuroscience and biobehavioral reviews 2017 Apr 75129-139 -
Pharmacogenomic aspects of bipolar disorder: An update.
Budde M et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2017 Mar -
Researching Complex and Multi-Level Workplace Factors Affecting Disability and Prolonged Sickness Absence.
Kristman Vicki L et al. Journal of occupational rehabilitation 2016 Dec 26(4) 399-416 -
Finding the Genes of Depression
F Addison, Front Line Genomics, April 2017, -
The role of gene-environment interplay in occupational and environmental diseases: current concepts and knowledge gaps.
Kwo Elizabeth et al. Current opinion in pulmonary medicine 2017 Mar 23(2) 173-176 -
From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy.
Oliveira Carla Roma et al. European journal of human genetics : EJHG 2017 Mar -
The impact of MTHFR 677 C/T genotypes on folate status markers: a meta-analysis of folic acid intervention studies.
Colson Natalie J et al. European journal of nutrition 2017 Feb 56(1) 247-260 -
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings Maartje J et al. Molecular immunology 2017 Apr 8465-76 -
Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.
Ibisler Aysegül et al. Journal of genetic counseling 2017 Mar
Ethics/Policy/Law
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Biobanking: Where Science and Society Meet
Genetic Testing & Biomarkers, March 2017 -
Ethics complicate clinical interpretation & reporting of human genome sequence results
Science Magazine, April 3, 2017 -
A qualitative study of adolescents' understanding of biobanks and their attitudes toward participation, re-contact, and data sharing.
Murad Andrea M et al. American journal of medical genetics. Part A 2017 Apr 173(4) 930-937 -
Comparative Approaches to Genetic Discrimination: Chasing Shadows?
Joly Yann et al. Trends in genetics : TIG 2017 Mar -
Learning from Latino voices: Focus Groups' Insights on Participation in Genetic Research.
Martinez Priscilla et al. The American journal on addictions 2017 Apr -
Ethical Legal and Social Issues of Biobanking: Past, Present, and Future.
Bledsoe Marianna J et al. Biopreservation and biobanking 2017 Apr -
Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice.
Ryan Kerry A et al. Journal of genetic counseling 2017 Mar
Practice
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Institutional profile: University of Florida Health Personalized Medicine Program.
Cavallari Larisa H et al. Pharmacogenomics 2017 Apr 18(5) 421-426 -
Preferences for the provision of whole genome sequencing services among young adults.
Wade Christopher H et al. PloS one 2017 12(3) e0174131 -
Does personal genome testing drive service utilization in an adult preventive medicine clinic?
Hoang Ny et al. Journal of community genetics 2017 Apr -
Comprehensive evaluation and validation of targeted next-generation sequencing performance in two clinical laboratories.
Mendez Pedro et al. International journal of oncology 2016 Jul 49(1) 235-42 -
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde Madhuri et al. Archives of pathology & laboratory medicine 2017 Mar -
Building a family network from genetic testing.
Leppig Kathleen A et al. Molecular genetics & genomic medicine 2017 Mar 5(2) 122-129
Heart, Lung, Blood and Sleep Diseases
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Proteomics of Atrial Fibrillation: Evolving From a Coarse Understanding to a Fine Phenotype.
Hyman Matthew C et al. JAMA cardiology 2017 Mar -
Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better?
Ouellette Allison Chang et al. Clinical genetics 2017 Mar -
Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).
Futema Marta et al. Atherosclerosis 2017 Mar 26047-55
Newborn Screening
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A Paper-Based Test for Screening Newborns for Sickle Cell Disease.
Piety Nathaniel Z et al. Scientific reports 2017 Apr 745488 -
Newborn screening for spinal muscular atrophy: The views of affected families and adults.
Boardman Felicity K et al. American journal of medical genetics. Part A 2017 Apr -
Neonatal screening for severe combined immunodeficiency in Brazil.
Kanegae Marilia Pyles Patto et al. Jornal de pediatria 92(4) 374-80 -
Successful newborn screening for Gaucher disease using fluorometric assay in China.
Kang Lulu et al. Journal of human genetics 2017 Mar
Pharmacogenomics
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Cost-effectiveness Analysis for Genotyping before Allopurinol Treatment to Prevent Severe Cutaneous Adverse Drug Reactions.
Ke Ching-Hua et al. The Journal of rheumatology 2017 Apr
Reproductive Health
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Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.
Maxwell Susannah et al. The Australian & New Zealand journal of obstetrics & gynaecology 2017 Mar -
Considering medical risk information and communicating values: A mixed-method study of women's choice in prenatal testing.
Chen An et al. PloS one 2017 12(3) e0173669 -
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.
Abou Tayoun Ahmad N et al. Prenatal diagnosis 2017 Mar -
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.
Phipps Julie et al. Journal of genetic counseling 2017 Mar -
What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?
Allyse Megan et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2017 Apr 1-4 -
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Mehta Nikita et al. Genetic testing and molecular biomarkers 2016 Sep 20(9) 504-9 -
Use of a patient decision aid for prenatal screening for Down syndrome: what do pregnant women say?
Portocarrero Maria Esther Leiva et al. BMC pregnancy and childbirth 2017 Mar 17(1) 90 -
Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
Zhang Bin et al. The Journal of international medical research 2017 Jan 300060517695008 -
Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.
Takyi Afua et al. Journal of assisted reproduction and genetics 2017 Mar -
Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review.
Gleicher Norbert et al. Journal of ovarian research 2017 Mar 10(1) 21
Tools/Databases
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Stenson Peter D et al. Human genetics 2017 Mar