Publication Date: Jun 1, 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
- Psychological impact of a genetic diagnosis on hearing impairment - an exploratory study.
Oonk A M M et al. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2017 May - The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary
C Riley et al, Pediatrics, June 2017 - "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.
von der Lippe Charlotte et al. Journal of genetic counseling 2017 May - Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Weinstein Veronique et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Summary of Pediatrics Supplement
- Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil.
Servidoni Maria Fátima et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(2) 121-128 - Clinical utility gene card for: Tangier disease.
Hooper Amanda J et al. European journal of human genetics : EJHG 2017 May - Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.
Reines Victoria et al. Journal of genetic counseling 2017 May - Evolving locally appropriate models of care for indian sickle cell disease.
Serjeant Graham R et al. The Indian journal of medical research 2016 Apr 143(4) 405-13 - Factors predicting persistence of early wheezing through childhood and adolescence: a systematic review of the literature.
Rodríguez-Martínez Carlos E et al. Journal of asthma and allergy 2017 1083-98
Cancer
- A Family History Questionnaire Sent to Patients Prior to Colonoscopy Enhances Genetic Counseling For Hereditary Colorectal Cancer.
Kessels Koen et al. Journal of digestive diseases 2017 May - A state-wide initiative to promote genetic testing in an underserved population.
Underhill Meghan L et al. Cancer medicine 2017 May - Colorectal Cancer Screening: Recommendations for Physicians and Patients from the U.S. Multi-Society Task Force on Colorectal Cancer.
Rex Douglas K et al. The American journal of gastroenterology 2017 May - Colon Capsule to Screen for Colorectal Neoplasia in Subjects with a Family History of Colorectal Cancer.
Parodi Andrea et al. Gastrointestinal endoscopy 2017 May - Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.
Etchegary Holly et al. Familial cancer 2017 May - Pediatric Predispositional Genetic Risk Communication: Potential Utility for Prevention and Control of Melanoma Risk as an Exemplar.
Wu Yelena P et al. Journal of genetic counseling 2017 May - Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review.
Hann Katie E J et al. BMC public health 2017 May 17(1) 503 - Predictive model for high-frequency microsatellite instability in colorectal cancer patients over 50 years of age.
Fujiyoshi Kenji et al. Cancer medicine 2017 May - Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.
Evers Christina et al. PloS one 2017 12(5) e0177893 - Addressing Hereditary Cancer Risk at the End of Life.
Roeland Eric J et al. Journal of oncology practice 2017 May JOP2017021980 - High-risk patients with breast cancer may not receive genetic testing.
Printz Carrie et al. Cancer 2017 Jun 123(11) 1887 - Genetics of Prostate Cancer (PDQ®) -Health Professional Version
PDQ Cancer Genetics Editorial Board, NCI, May 2017 - Open-access genetic screening for hereditary breast cancer is feasible and effective,
Science Daily, May 27, 2017 - Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access.
Shipman Hannah et al. Journal of genetic counseling 2017 May - Why Would Men Need Genetic Testing for Breast Cancer Too?
Cleveland Clinic Health Essentials - Immunotherapy drug opens a new era of precision medicine for cancer
M Healy, May 26, 2017 - Researchers Seek Genetic Factors for Breast Cancer Risk in Black Women
S Rochman, JNCI, May 2017 - Utility of genomic assessment of blood-derived circulating tumor DNA (ctDNA) in patients with advanced lung adenocarcinoma.
Schwaederle Maria et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 May - Multi-institutional Evaluation of Women at High Risk of Developing Breast Cancer.
Hermel David J et al. Clinical breast cancer 2017 Apr - The Cancer Worry Scale Revised for Breast Cancer Genetic Counseling.
Caruso Anita et al. Cancer nursing 2017 May - Increasing the age limit for Lynch syndrome genetic testing may save lives
Science Magazine, May 29, 2017 - Medical research: Personalized test tracks cancer relapse
A Bardelli, Nature News, May 2017 - Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.
Kim Jihun et al. Journal of pathology and translational medicine 2017 May 51(3) 191-204 - Qualitative analysis of how patients decide that they want risk-reducing mastectomy, and the implications for surgeons in responding to emotionally-motivated patient requests.
Brown Stephen L et al. PloS one 2017 12(5) e0178392 - Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation.
Postema Floor A M et al. European journal of cancer (Oxford, England : 1990) 2017 May 8048-54 - Role and clinical application of next-generation sequencing (NGS) for ovarian cancer.
Lim Myong Cheol et al. Journal of gynecologic oncology 2017 Jul 28(4) e51 - Seeing the Forest through the Phylogenetic Tree.
Robles Ana I et al. The New England journal of medicine 2017 Jun 376(22) 2190-2191
Chronic Diseases
- Attitudes about Future Genetic Testing for Posttraumatic Stress Disorder and Addiction among Community-Based Veterans.
Lent Michelle R et al. Frontiers in psychiatry 2017 876 - A New Drug for A.L.S., but the Diagnosis Remains Dire
JE Brody, New York Times, May 29, 2017 - Painting a new picture of personalised medicine for diabetes.
McCarthy Mark I et al. Diabetologia 2017 May 60(5) 793-799 - Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.
Vega Irving E et al. Journal of Alzheimer's disease : JAD 2017 May - Lifestyle and precision diabetes medicine: will genomics help optimise the prediction, prevention and treatment of type 2 diabetes through lifestyle therapy?
Franks Paul W et al. Diabetologia 2017 May 60(5) 784-792 - Ethical Translations of Psychiatric Genomics Into Mental Health Practice: Response to Commentaries.
Kong Camillia et al. The American journal of bioethics : AJOB 2017 Jun 17(6) W3-W5 - State of Play in Alzheimer's Disease Genetics.
Zhu Jin-Bao et al. Journal of Alzheimer's disease : JAD 2017 May - The use of electronic health records for psychiatric phenotyping and genomics.
Smoller Jordan W et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 May - Evaluating a Gene-Environment Interaction in Amyotrophic Lateral Sclerosis: Methylmercury Exposure and Mutated SOD1.
Bailey Jordan M et al. Current environmental health reports 2017 Jun 4(2) 200-207 - Gene-Diet Interaction and Precision Nutrition in Obesity.
Heianza Yoriko et al. International journal of molecular sciences 2017 Apr 18(4)
Ethics, Policy and Law
- Geneticizing Ethnicity and Diet: Anti-doping Science and Its Social Impact in the Age of Post-genomics.
Hyun Jaehwan et al. Frontiers in genetics 2017 856 - Direct-to-Consumer Medical Testing in the Era of Value-Based Care.
Rockwell Kimberly Lovett et al. JAMA 2017 May
Genomics in Practice
- Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande Natasha T et al. American journal of human genetics 2017 May - The Value of Biosamples in Smoking Cessation Trials: A Review of Genetic, Metabolomic, and Epigenetic Findings.
Saccone Nancy L et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2017 May - 23andMe Paves the Way for Direct-to-Consumer Genetic Health Risk Tests of Limited Clinical Utility.
Wynn Julia et al. Annals of internal medicine 2017 May - The direct-to-consumer genetic testing fog
T Caulfield, Policy Options, May 2017 - Anxiety and Hereditary Testing Results.
Sorscher Steven et al. Journal of genetic counseling 2017 May - Challenges to Personalized Medicine Implementation Explored in IGNITE Network Projects,
Genome Web, May 25, 2017 - Identifying opportunities for collaboration and growth of genetic counseling services in the Asia Region.
Laurino Mercy Y et al. Journal of community genetics 2017 May
Cardiovascular Diseases
- Therapies That Target PCSK9 Effective at Reducing LDL Cholesterol.
Slomski Anita et al. JAMA 2017 May 317(20) 2054 - When do paediatric patients with familial hypercholesterolemia need statin therapy?
Hennig Matylda et al. Developmental period medicine 2017 21(1) 43-50 - Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.
Sharifi Mahtab et al. Atherosclerosis 2017 May - Polygenic Risk Score Identifies Subgroup with Higher Burden of Atherosclerosis and Greater Relative Benefit from Statin Therapy in the Primary Prevention Setting.
Natarajan Pradeep et al. Circulation 2017 Feb - Common Variants for Cardiovascular Disease: Clinical Utility Confirmed.
Humphries Steve E et al. Circulation 2017 May 135(22) 2102-2105
Newborn Screening
- Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry Jessica C et al. Journal of clinical immunology 2017 May
Reproductive Health
- With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen Inge B et al. Journal of community genetics 2017 May - Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society.
Sieroszewski Piotr et al. European journal of obstetrics, gynecology, and reproductive biology 2017 May
Pharmacogenomics
- Codeine Therapy and CYP2D6 Genotype
L Dean, NCBI 2012 - All Scientific Hands on Deck to End the Opioid Crisis
N Volkov and F Collins, NIH Blog, May 31, 2017 - Tramadol Therapy and CYP2D6 Genotype
L Dean, NCBI 2015 - Pharmacogenomics for personalized pain medicine.
Ko Tai-Ming et al. Acta anaesthesiologica Taiwanica : official journal of the Taiwan Society of Anesthesiologists 2016 Mar 54(1) 24-30
Tools and Databases
- Measuring higher-order drug interactions: A review of recent approaches
E Tekin et al, Current Opinion System Biology, May 2017
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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