Publication Date: Feb 1, 2018
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.
Singh Mahavir et al. International journal of ophthalmology 2018 11(1) 117-134 - Rapid Whole Genome Sequencing Decreases Morbidity and Healthcare Cost of Hospitalized Infants
L Farnaes et al, BioRXIV, Jan 26, 2018 - A Family’s Race to Cure a Daughter’s Genetic Disease
E Check Hayden, Wired, Jan 31, 2018 - Clinical utility gene card for McArdle disease.
Taylor Rhonda L et al. European journal of human genetics : EJHG 2018 Jan - Glucose-6-phosphate dehydrogenase deficiency in internationally adopted children.
Spring Rachel et al. Pediatric blood & cancer 2018 Jan - AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama Elise et al. Retina (Philadelphia, Pa.) 2018 Jan - Dystrophinopathy muscle biopsies in the genetic testing era: One center's data.
Carlson Courtney R et al. Muscle & nerve 2018 Jan - Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.
Shakiba Marjan et al. Iranian journal of child neurology 2018 12(1) 7-15 - Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude Frédéric et al. Nature reviews. Endocrinology 2018 Jan
Cancer
- NCI Recognizes World Cancer Day 2018
- Breast Cancer Screening in Women at Higher-Than-Average Risk: Recommendations From the ACR.
Monticciolo Debra L et al. Journal of the American College of Radiology : JACR 2018 Jan - Do Genomic Assays Provide the Necessary Confidence to De-escalate Adjuvant Therapy?
Costa Ricardo L B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017769802 - Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin Mev et al. Hereditary cancer in clinical practice 2018 164 - New 'Liquid Biopsy' Shows Early Promise in Detecting Cancer
NIH Director's blog, Jan 30, 2018 - A prognostic mutation panel for predicting cancer recurrence in stages II and III colorectal cancer.
Sho Shonan et al. Journal of surgical oncology 2017 Dec 116(8) 996-1004 - Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents.
Hill Jessica A et al. European journal of human genetics : EJHG 2018 Jan - Multicenter validation of cancer gene panel-based next-generation sequencing for translational research and molecular diagnostics.
Hirsch B et al. Virchows Archiv : an international journal of pathology 2018 Jan - Molecular Testing of Non-Small Cell Lung Carcinoma Diagnosed by Endobronchial Ultrasound-Guided Transbronchial Fine-Needle Aspiration.
Doxtader Erika E et al. Archives of pathology & laboratory medicine 2018 Jan - TARGET Study Finds Major Differences between Childhood and Adult AML
NCI, Jan 30, 2018 - Overcoming the Challenges of Metastatic Cancer
NCI, 2017 - Genetic assessment wait time indicators in the High Risk Ontario Breast Screening Program.
Eisen Andrea et al. Molecular genetics & genomic medicine 2018 Jan - Prospective Evaluation of the Impact of the 21-Gene Recurrence Score Assay on Adjuvant Treatment Decisions for Women with Node-Positive Breast Cancer in Ontario, Canada.
Torres Sofia et al. The oncologist 2018 Jan - [Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China].
et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2018 Jan 40(1) 64-77 - Multigene Signature Panels and Breast Cancer Therapy: Patterns of Utilization and Impact on Clinical Decision Making.
Bhutiani Neal et al. Journal of the American College of Surgeons 2018 Jan - Immunohistochemistry testing for mismatch repair deficiency in Stage 2 colon cancer: A cohort study of two cancer centres.
Grant Matthew et al. International journal of surgery (London, England) 2018 Jan - Clinical utility of non-EpCAM based circulating tumor cell assays.
Garland Austin R et al. Advanced drug delivery reviews 2018 Jan - The NCI-MATCH trial and precision medicine in gynecologic cancers.
Barroilhet Lisa et al. Gynecologic oncology 2018 Jan - Cancer’s Invasion Equation- We can detect tumors earlier than ever before. Can we predict whether they’re going to be dangerous?
S. Mukherjee, New Yorker, 2017 | - Colorectal Cancer Screening and Surveillance in Individuals at Increased Risk.
Wilkins Thad et al. American family physician 2018 Jan 97(2) 111-116 - Planning Today for Tomorrow's Research: Analysis of Factors Influencing Participation in a Pediatric Cancer Research Biorepository.
Labib Rania M et al. Frontiers in oncology 2017 7324 - Mutant KRAS Circulating Tumor DNA Is an Accurate Tool for Pancreatic Cancer Monitoring.
Perets Ruth et al. The oncologist 2018 Jan - Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations.
Hu Zishuo I et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Jan - Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience.
Courtney Eliza et al. Familial cancer 2018 Jan - Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
Drazer Michael W et al. Blood advances 2018 Jan 2(2) 146-150 - Effect of interventions incorporating personalised cancer risk information on intentions and behaviour: a systematic review and meta-analysis of randomised controlled trials.
Usher-Smith Juliet A et al. BMJ open 2018 Jan 8(1) e017717 - Clinical study of hereditary ovarian cancer syndrome in Shandong province, East China.
Sheng Xiugui et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2018 Jan - Communicating with Daughters About Familial Risk of Breast Cancer: Individual, Family, and Provider Influences on Women's Knowledge of Cancer Risk.
Peipins Lucy A et al. Journal of women's health (2002) 2018 Jan
Chronic Disease
- Precision medicine in diabetes: an opportunity for clinical translation.
Merino Jordi et al. Annals of the New York Academy of Sciences 2018 Jan 1411(1) 140-152 - Brain and blood metabolite signatures of pathology and progression in Alzheimer disease: A targeted metabolomics study.
Varma Vijay R et al. PLoS medicine 2018 Jan 15(1) e1002482 - Genetic Basis Uncovered for Glaucoma
W Doss, Northwestern University, Jan 29, 2018 - Genomics and Obesity: We Need Both Population and Individualized Approaches in the Prevention and Management of Obesity
Khoury M, CDC Blog, Jan 2018 - New study points to why so many more women develop lupus than men
A Joseph, Stat News, Jan 29, 2018 - Research Spotlights: Online game increases family physical activity levels; Obesity gene and unhealthy eating behaviors; Online game increases family physical activity levels
OBSSR, January 2018 - The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009-2014.
Moonesinghe Ramal et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Lifestyle Changes Prevent Cognitive Decline Even in Genetically Susceptible People
Neuroscience News, Jan 25, 2018 - The Impact of Family History on the Public Health Burden of Diagnosed Diabetes, Undiagnosed Diabetes and Prediabetes in the United States: Using Family History for Diabetes Control and Prevention
R Moonesinghe et al, CDC Blog, Jan 2018 - Genetics of immune-mediated inflammatory diseases.
David Trixy et al. Clinical and experimental immunology 2018 Jan - Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli Martina et al. Gene 2018 Mar 64518-29 - Are we ready for genetic testing for primary open-angle glaucoma?
Khawaja Anthony P et al. Eye (London, England) 2018 Jan - The interaction of genetic predisposition and socioeconomic position with type 2 diabetes mellitus: cross-sectional and longitudinal analyses from the Lifelines Cohort and Biobank Study.
van Zon Sander K R et al. Psychosomatic medicine 2018 Jan
Ethical, Legal and Social Issues (ELSI)
- Direct-to-consumer genetic testing and privacy
Office of the Privacy Commissioner of Canada, December 2017
General Practice
- At Davos, industry leaders discuss the promise and pitfalls of precision medicine
R Robbins, Stat News, Jan 26, 2018 - Precision Health: Use of Omics to Optimize Self-Management of Chronic Pain in Aging.
Dorsey Susan G et al. Research in gerontological nursing 2018 Jan 11(1) 7-13 - Big data and public health
Harvard School of Public Health, Multimedia, Jan 25, 2018 - DNA methylation as a mediator of the association between prenatal adversity and risk factors for metabolic disease in adulthood
EW Tobi et al, Science Advances, Jan 31, 2018 - Large-Scale Sequencing Projects Navigate Grey Area Between Research, Clinical Testing
M Heger, GenomeWeb, Jan 26, 2018 - How Might the Genetics Profession Better Utilize Social Media.
Moore Rebekah A et al. Journal of genetic counseling 2018 Jan - Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia.
D'Andrea Elvira et al. European journal of human genetics : EJHG 2018 Jan - Beyond genomics: understanding exposotypes through metabolomics.
Rattray Nicholas J W et al. Human genomics 2018 Jan 12(1) 4 - Big Data Comes to Dieting
G Reynolds, NY Times, Jan 25, 2018 - GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.
Koile Daniel et al. BMC bioinformatics 2018 Jan 19(1) 25 - Toward the implementation of genomic applications for smoking cessation and smoking-related diseases.
Ramsey Alex T et al. Translational behavioral medicine 2018 Jan 8(1) 7-17 - Integrative Personal Omics Profiles during Periods of Weight Gain and Loss.
Piening Brian D et al. Cell systems 2018 Jan - Study Recruitment to Accelerate Precision Medicine.
Kuehn Bridget M et al. JAMA 2018 Jan 319(4) 332 - GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service.
Wang Yiqi et al. BMC genomics 2018 Jan 19(Suppl 1) 959 - The Famine Ended 70 Years Ago, but Dutch Genes Still Bear Scars
C Zimmer, NY Times, Jan 31, 2018 - The role of the clinician in the multi-omics era: are you ready?
van Karnebeek Clara D M et al. Journal of inherited metabolic disease 2018 Jan - How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.
Vassy Jason L et al. Journal of general internal medicine 2018 Jan - Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett Gemma R et al. Journal of genetic counseling 2018 Jan - Genetic Counselors' Experiences and Interest in Telegenetics and Remote Counseling.
Zierhut Heather A et al. Journal of genetic counseling 2018 Jan
Heart, Lung, Blood and Sleep Diseases
- SEnsitivity and specificity of biochemical screening for familial hypercholesterolaemia in childhood: avon longitudinal study of parents and children (ALSPAC).
Humphries Steve et al. Atherosclerosis 2017 Aug 263e39 - Genetic diagnosis of familial hypercholesterolaemia: Preliminary data from the university of padua outpatient lipid clinic.
Bigolin Paola et al. Atherosclerosis 2017 Aug 263e39 - Mutational analysis of children and adolescents with familial hypercholesterolemia ascertained by child-parent screening.
Minicocci Ilenia et al. Atherosclerosis 2017 Aug 263e99 - Genetic studies in definite/probable FH in Argentina.
Corral Pablo et al. Atherosclerosis 2017 Aug 263e62 - Systematic review of LDLR mutations associated to familial hypercholesterolaemia - evidence of functional studies and application of acmg guidelines for FH diagnosis.
Chora Joana Rita et al. Atherosclerosis 2017 Aug 263e221 - Characteristics of children with familial and polygenic hypercholesterolemia referred through the national universal hypercholesterolemia screening - a preliminary report.
Groselj Urh et al. Atherosclerosis 2017 Aug 263e25-e26 - Genetic testing of familial hypercholesterolemia: Monogenic form and polygenic contribution to cardiovascular risk.
Couvert Philippe et al. Atherosclerosis 2017 Aug 263e94 - Effectiveness of reverse cascade screening for familial hypercholesteroleamia in very high risk families in China.
Wu Xue et al. Atherosclerosis 2017 Aug 263e235-e236 - Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Ghaleb Youmna et al. European journal of human genetics : EJHG 2018 Jan - Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from FH services in the UK.
Humphries Steve et al. Atherosclerosis 2017 Aug 263e24-e25 - Cascade screening, clinical features and genetic aspects-familial hypercholesterolemia study in China.
Lin Jie et al. Atherosclerosis 2017 Aug 263e231 - Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Hauser Natalie S et al. Molecular genetics & genomic medicine 2018 Jan - The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.
Charron Philippe et al. European heart journal 2018 Jan - First data from the German cascade screening program for familial hypercholesterolemia - care high.
Schmidt Nina et al. Atherosclerosis 2017 Aug 263e233-e234 - Using general practice electronic databases to increase the identification of familial hypercholesterolaemia in primary care.
Ryan Jacqueline Dm et al. Atherosclerosis 2017 Aug 263e61 - Big data from electronic health records for early and late translational cardiovascular research: challenges and potential.
Hemingway Harry et al. European heart journal 2017 Aug - CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Whiffin Nicola et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
Newborn Screening
- Psychosocial impact on mothers receiving expanded newborn screening results.
O'Connor Kathleen et al. European journal of human genetics : EJHG 2018 Jan
Pharmacogenomics
- GLOBAL OPIOID EPIDEMIC: DOOMED TO FAIL WITHOUT GENETICALLY BASED PRECISION ADDICTION MEDICINE (PAM™): LESSONS LEARNED FROM AMERICA.
Blum Kenneth et al. Precision medicine 2017 2(1) 17-22 - Genome Culture: Genetic Testing for Susceptibility to Opioid Addiction Is a Risky Business
L Hercher, Genome Magazine, Jan 25, 2018 - Benefit of pre-emptive pharmacogenetic information on clinical outcome.
Roden Dan M et al. Clinical pharmacology and therapeutics 2018 Jan
Reproductive Health
- Frequency of carrier screening and preventive orientation among first degree relatives of Thalassaemia patients.
Hashim Seemab et al. JPMA. The Journal of the Pakistan Medical Association 2018 Jan 68(1) 50-54 - Pre-implantation genetic diagnosis and pre-implantation genetic screening: two years experience at a single center.
Won Se Yeon et al. Obstetrics & gynecology science 2018 Jan 61(1) 95-101 - Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
Komlosi Katalin et al. Orphanet journal of rare diseases 2018 Jan 13(1) 23 - Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists.
Reumkens Kelly et al. Journal of genetic counseling 2018 Jan - Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances.
Benn Peter et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Jan - Investigating Pregnancy Outcomes After Abnormal Cell-Free DNA Test Results.
Lu Jessica et al. Journal of genetic counseling 2018 Jan - Obstetrical provider knowledge and attitudes towards cell-free DNA screening: results of a cross-sectional national survey.
Chan Wilson V et al. BMC pregnancy and childbirth 2018 Jan 18(1) 40 - Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study.
Hui Lisa et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 Jan
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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