Publication Date: Apr 6, 2017
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
- Facial recognition software helps diagnose rare genetic disease
NHGRI, March 2017 - Autism: Why Act Early?
- 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
- 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 Can’t 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 - 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 Diseases
- 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 - 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 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 and Law
- 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
Genomics in Practice
- How the genomics revolution could finally help Africa
L Nordling, Nature News, April 5, 2017 - 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 - 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
Cardiovascular Diseases
- 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
- 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 - Successful newborn screening for Gaucher disease using fluorometric assay in China.
Kang Lulu et al. Journal of human genetics 2017 Mar
Reproductive Health
- 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 - 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 - 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
Pharmacogenomics
- 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
Tools and Databases
- 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
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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