Publication Date: Mar 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
- Rare Disease Day - rare diseases aren't rare
Genomics England, Feb 28, 2018
- March 3 is World Birth Defects Day!
A volunteer-based organization whose aim is to contribute to increase the awareness on birth defects surveillance, prevention
- Clinical manifestations of sickle cell disease in India: misconceptions and reality.
Jain Dipty et al. Current opinion in hematology 2018 Feb
- Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Thuriot Fanny et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb
- Rare Disease Day 2018
FDA, Feb 2018
- RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
H Lochmuller et al, Eur J Hum Genetics, Feb 27, 2018
- Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal Rahul et al. Gene 2018 Mar 647297-305
- Preventing gatekeeping delays in the diagnosis of rare diseases.
de Vries Esther et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2018 Mar 68(668) 145-146
- World Birth Defects Day, March 3, 2018
- Barriers and facilitators to clinical trial participation among parents of children with pediatric neuromuscular disorders.
Peay Holly L et al. Clinical trials (London, England) 2018 Jan 1740774517751118
- Rare disease, genomics and the future
Genomics Education UK, Feb 26, 2018
- Autism spectrum disorder and genetic testing: Parental perceptions and decision-making.
Hanish Alyson E et al. Journal for specialists in pediatric nursing : JSPN 2018 Feb
- Rare Disease Day Spotlight on PLOS Authors: Open Data Repositories in Practice
PLOS Blogs, Feb 2018
- Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).
Richardson Annely M et al. Current allergy and asthma reports 2018 Feb 18(3) 19
- Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote David et al. European journal of human genetics : EJHG 2018 Feb
- Diagnostic utility of telomere length testing in a hospital-based setting.
Alder Jonathan K et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Feb
- New genetic link reveals some ovarian cancer passed down by fathers
M Lieber, NN, Feb 26, 2018
- NCCN Updates Prostate Cancer Management Guidelines,
Journal of Clinical Pathways, February 23, 2018
- Introducing genomics into cancer care.
Hill S et al. The British journal of surgery 2018 Jan 105(2) e14-e15
- The Heterogeneity Between Lynch-Associated and Sporadic MMR Deficiency in Colorectal Cancers.
Liu Guo-Chen et al. Journal of the National Cancer Institute 2018 Feb
- A Novel Method to Detect Early Colorectal Cancer Based on Chromosome Copy Number Variation in Plasma.
Xu Jun-Feng et al. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 Feb 45(4) 1444-1454
- Family History Increases Breast Cancer Risk Even in Older Women: Weighing Screening Options
Georgetown Medical Center, Feb, 2018
- Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?
Tawana Kiran et al. Leukemia 2018 Feb
- Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
Boland Patrick M et al. CA: a cancer journal for clinicians 2018 Feb
- Intraoperative Evaluation of Prophylactic Hysterectomy and Salpingo-oophorectomy Specimens in Hereditary Gynecologic Cancer Syndromes.
Wong Serena et al. Histopathology 2018 Feb
- Epigenome-based cancer risk prediction: rationale, opportunities and challenges.
Widschwendter Martin et al. Nature reviews. Clinical oncology 2018 Feb
- Analysis of Tissue and Circulating Tumor DNA by Next Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.
Ikeda Sadakatsu et al. Molecular cancer therapeutics 2018 Feb
- Recommendations and Choices for BRCA Mutation Carriers at Risk for Ovarian Cancer: A Complicated Decision.
Lewis Kelsey E et al. Cancers 2018 Feb 10(2)
- The ramifications of a new type of gene- It can pass on acquired characteristics
The Economist, Feb 22, 2018
- Reducing Overtreatment of Cancer With Precision Medicine: Just What the Doctor Ordered.
Katz Steven J et al. JAMA 2018 Feb
- Hereditary Cancers in Gynecology: What Physicians Should Know About Genetic Testing, Screening, and Risk Reduction.
Ring Kari L et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 155-173
- Association of BRCA1/2 mutations with ovarian cancer prognosis: An updated meta-analysis.
Huang Yong-Wen et al. Medicine 2018 Jan 97(2) e9380
- Can a Blood Test Detect Cancer?
A Carson, Genome Magazine, Feb 2018
- Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
Singh Jaya et al. Breast cancer research and treatment 2018 Feb
- Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
Morak Monika et al. Journal of medical genetics 2018 Feb
- Is Hormone Replacement Therapy Safe in Women With a BRCA Mutation?: A Systematic Review of the Contemporary Literature.
Birrer Nicole et al. American journal of clinical oncology 2018 Mar 41(3) 313-315
- Personalized cancer screening: helping primary care rise to the challenge.
Selby Kevin et al. Public health reviews 2018 394
- The Use of Biomarkers in Prostate Cancer Screening and Treatment.
Ashley V Alford et al. Reviews in urology 2017 19(4) 221-234
- Cancer detection: Seeking signals in blood.
Kalinich Mark et al. Science (New York, N.Y.) 2018 359(6378) 866-867
- N_LyST: a simple and rapid screening test for Lynch syndrome.
Susanti Susanti et al. Journal of clinical pathology 2018 Feb
- Managing unsolicited findings in genomics: a qualitative interview study with cancer patients.
Bijlsma R M et al. Psycho-oncology 2018 Feb
- Circulating tumor DNA 5-hydroxymethylcytosine as a novel diagnostic biomarker for esophageal cancer.
Tian Xin et al. Cell research 2018 Feb
- Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline.
Kanga-Parabia Anaita et al. Familial cancer 2018 Feb
- Mental disorders may share molecular origins
NIH Research Matters, Feb 27, 2018
- Biological factors and weight loss methods
NIH Research Matters, Feb 27, 2018
- TRAPPED - an insight into two sisters' struggle to access treatment for a rare genetic disease.
Al-Attar Mariam et al. Orphanet journal of rare diseases 2018 Feb 13(1) 37
- Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg Anna et al. European journal of human genetics : EJHG 2018 Feb
- Gene-altering treatments are medicine's best shot yet against Huntington's disease
E Mullin, Tech Review, Feb 15, 2018
- Genetics researchers close in on schizophrenia
Cardiff University, Feb 26, 2018
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Dunn Paul et al. Frontiers in genetics 2018 920
- Cognitively Healthy Individuals Want to Know Their Risk for Alzheimer's Disease: What Should We Do?
Stites Shana D et al. Journal of Alzheimer's disease : JAD 2018 62(2) 499-502
Ethical, Legal and Social Issues (ELSI)
- Key Ethical Issues in Prenatal Genetics: An Overview.
Farrell Ruth M et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 127-141
- Fairness in Precision Medicine
Kadija Ferryman and Mikaela Pitcan, Data and Society, Feb 26, 2018
- Ethical Implications of Rapid Whole-Genome Sequencing in Neonates.
Bell Susan Givens et al. Neonatal network : NN 2018 Jan 37(1) 42-44
- Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?
Mitchell Phoebe B et al. Journal of empirical research on human research ethics : JERHRE 2018 Jan 1556264617753483
- Risk stratification, genomic data and the law.
Hall Alison et al. Journal of community genetics 2018 Feb
- World Hearing Day: March 3 Prevent Hearing Loss
- A Scientist's Mission: Talking Genetics With Everybody
AD Marcus, WSJ, Feb 26, 2018
- The human noncoding genome defined by genetic diversity
Julia di Iulio, et al. Nature Genetics (2018) Feb 26
- Consumer use and response to online third-party raw DNA interpretation services.
Wang Catharine et al. Molecular genetics & genomic medicine 2018 Jan 6(1) 35-43
- Should public health leaders get on the genomics train?
By Colleen M. McBride, OUPblog, February 20, 2018
- Toward achieving precision health
Gambhir1 SS, et al. Science Translational Medicine 28 Feb 2018: Vol. 10, Issue 430, eaao3612
- The ramifications of a new type of gene- It can pass on acquired characteristics
- Rules of engagement: perspectives on stakeholder engagement for genomic biobanking research in South Africa.
Staunton Ciara et al. BMC medical ethics 2018 Feb 19(1) 13
- Clinical testing of BRCA1 and BRCA2 : a worldwide snapshot of technological practices.
Toland Amanda Ewart et al. NPJ genomic medicine 2018 37
- Integrative omics for health and disease.
Karczewski Konrad J et al. Nature reviews. Genetics 2018 Feb
- The use of omics profiling to improve outcomes of bone regeneration and osseointegration. How far are we from personalized medicine in dentistry?
Calciolari E et al. Journal of proteomics 2018 Feb
- Genetics and Genomics in Nursing Science.
Henderson Wendy A et al. Biological research for nursing 2018 Mar 20(2) 117
- Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years.
Linderman Michael D et al. BMC medical genomics 2018 Jan 11(1) 5
- Penetrance estimates for BRCA1 , BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
Evans D Gareth et al. Journal of medical genetics 2018 Feb
- Considerations for Developing Targeted Therapies in Low-Frequency Molecular Subsets of a Disease.
Schuck Robert N et al. Clinical pharmacology and therapeutics 2018 Feb
- Successful translation? Consider the value of implementation
P Bedford, Signals Blog,Feb 26, 2018
- Rural-urban and racial-ethnic differences in awareness of direct-to-consumer genetic testing.
Salloum Ramzi G et al. BMC public health 2018 Feb 18(1) 277
- Unexplored therapeutic opportunities in the human genome.
Oprea Tudor I et al. Nature reviews. Drug discovery 2018 Feb
- Hearing Loss in Adults.
Cunningham Lisa L et al. The New England journal of medicine 2017 Dec 377(25) 2465-2473
- Food allergy and omics.
Dhondalay Gopal Krishna et al. The Journal of allergy and clinical immunology 2018 Jan 141(1) 20-29
- Evidence Based Medicine and Big Genomic Data.
Ioannidis John P A et al. Human molecular genetics 2018 Feb
- Advancing translational research and precision medicine with targeted proteomics.
Uzozie Anuli Christiana et al. Journal of proteomics 2018 Feb
- Clinical judgement in precision medicine.
Tonelli Mark R et al. Journal of evaluation in clinical practice 2018 Feb
Heart, Lung, Blood and Sleep Diseases
- Chris Bombardier: Reaching New Heights
He is the first person with hemophilia to summit Mount Everest, Hemaware, Feb 2018
- What Genetic Testing Might Uncover About Your (And Your Family Members) Heart Health
A Morales, Genome Magazine, Feb 28, 2018
- Beyond the Data - Million Hearts® 2022: A Compelling Call to Action
CDC You Tube Video, Feb 2018
- Short telomeres - A hallmark of heritable cardiomyopathies.
Chang Alex C Y et al. Differentiation; research in biological diversity 2018 Feb 10031-36
- Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practice in Poland.
Chlebus Krzysztof et al. Kardiologia polska 2018 Feb
- Science Saturday: Is your family at risk for genetic cardiovascular disease?
S Sparks, Mayo Clinic, Feb 2018
- A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).
Kayikcioglu Meral et al. Atherosclerosis 2018 Jan 27042-48
- EXPRESS: Whole Exome Sequencing Improves Genetic Testing Accuracy in Pulmonary Artery Hypertension.
Zeng Xiaofang et al. Pulmonary circulation 2018 Jan 2045894018763682
- Bad genes don't mean you are doomed to heart disease and early death
M Cimons, Washington Post, Feb 24, 2018
- Sickle Cell Disease: When to Transfuse
CDC Medscape Video, Feb 2018
- Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy.
Bonner Carissa et al. Journal of genetic counseling 2018 Feb
- Prevalence of high cholesterol levels suggestive of familial hypercholesterolemia in Brazilian adolescents: Data from the study of cardiovascular risk in adolescents.
Kaestner Tatiana L et al. Journal of clinical lipidology 2017 Dec
- Coronary Artery Abnormalities as the Cause of Sudden Cardiac Death: A 20-Year Review.
Pawlowicz Bernard et al. The American journal of forensic medicine and pathology 2018 Feb
- The Essential Role of Primary Caregiver in Early Detection of Familial Hypercholesterolemia and Cardiovascular Prevention.
St-Pierre Julie et al. Current pediatric reviews 2018 Feb
- Challenges and Opportunities in Establishing and Maintaining Newborn Screening in a Rural Area of Andhra Pradesh - Task Force Study by Indian Council of Medical Research.
Radha Rama Devi A et al. Indian journal of pediatrics 2018 Feb
- Would you test your newborn's DNA for 193 genetic diseases?
C Abate, Health Line, Feb 24, 2018
- Pharmacogenomics signature: A novel strategy on the individual differences in drug response.
Guo Chengxian et al. Cancer letters 2018 Feb 420190-194
- Pharmacogenetics and target identification in diabetes.
Pearson Ewan R et al. Current opinion in genetics & development 2018 Feb 5068-73
- Foreword: Update on the Treatment of Depression and Pharmacogenomics Testing in Children and Adolescents: Dr. Strawn and Colleagues.
Pascoe John M et al. Current problems in pediatric and adolescent health care 2018 Feb 48(2) 29-30
- A nationwide cross-sectional survey of pharmacy students on pharmacogenetic testing in The Netherlands.
Bank Paul Cd et al. Pharmacogenomics 2018 Feb
- PharmGKB: A worldwide resource for pharmacogenomic information.
Barbarino Julia M et al. Wiley interdisciplinary reviews. Systems biology and medicine 2018 Feb
- Pharmacogenetic Testing May Improve Drug Treatments and Shorten Disability Leaves.
Lefaivre Antoine et al. Benefits quarterly 2017 33(1) 43-49
- Patient perspectives following pharmacogenomics results disclosure in an integrated health system.
Lemke Amy A et al. Pharmacogenomics 2018 Feb
- What is the real "price" of more prenatal screening and fewer diagnostic procedures? Costs and trade-offs in the genomic era.
Hui Lisa et al. Prenatal diagnosis 2018 Feb
- Maternal sepsis in the era of genomic medicine.
Kouskouti C et al. Archives of gynecology and obstetrics 2018 Jan 297(1) 49-60
- The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis.
Stosic Melissa et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 55-68
- The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser Daniel et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 143-154
- Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.
Ravi Harini et al. PloS one 2018 13(2) e0193476
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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