Publication Date: Apr 5, 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
- Duchenne and Becker muscular dystrophy in adolescents: current perspectives.
Andrews Jennifer G et al. Adolescent health, medicine and therapeutics 2018 953-63 - Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.
Dragojlovic Nick et al. Journal of evaluation in clinical practice 2018 Apr 24(2) 416-422 - Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.
Campbell Mary Beth et al. Cold Spring Harbor molecular case studies 2018 Apr 4(2) - Elevated polygenic burden for autism is associated with differential DNA methylation at birth.
Hannon Eilis et al. Genome medicine 2018 Mar 10(1) 19 - Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
Spiegler Stefanie et al. Molecular syndromology 2018 Feb 9(2) 60-69
Cancer
- Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel Heather et al. JAMA oncology 2018 Mar - The emerging clinical relevance of genomics in cancer medicine.
Berger Michael F et al. Nature reviews. Clinical oncology 2018 Mar - Clinical utility of cell-free DNA for the detection of ALK fusions and genomic mechanisms of ALK inhibitor resistance in non-small cell lung cancer.
McCoach Caroline E et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Mar - Lynch Syndrome Testing Results Conflict Among Women with Endometrial Cancer
J Skarzynski, Cure, Apr 1, 2018 - Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history.
Meiser Bettina et al. European journal of human genetics : EJHG 2018 Mar - Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer.
Muñoz Martín Andrés J et al. British journal of cancer 2018 Mar - Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations.
Tamborero David et al. Genome medicine 2018 Mar 10(1) 25 - Clinical and economic impact of the 21-gene recurrence score assay in adjuvant therapy decision making in patients with early-stage breast cancer: pooled analysis in 4 Basque Country university hospitals.
Martínez Del Prado Purificación et al. ClinicoEconomics and outcomes research : CEOR 2018 10189-199 - Molecular Testing for the Treatment of Advanced Colorectal Cancer: An Overview.
Lin Patrick S et al. Methods in molecular biology (Clifton, N.J.) 2018 1765281-297 - Molecular Profiling of Liquid Biopsy Samples for Precision Medicine.
Campos Camila D M et al. Cancer journal (Sudbury, Mass.) 24(2) 93-103 - Modeling Cost-Effectiveness of a Biomarker-Based Approach to Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer.
Lotan Yair et al. BJU international 2018 Mar - The role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials.
McVeigh Terri Patricia et al. European journal of cancer (Oxford, England : 1990) 2018 Mar 9520-29 - Involvement and Influence of Healthcare Providers, Family Members, and Other Mutation Carriers in the Cancer Risk Management Decision-Making Process of BRCA1 and BRCA2 Mutation Carriers.
Puski Athena et al. Journal of genetic counseling 2018 Mar - Familial communication and cascade testing among relatives of BRCA population screening participants.
Lieberman Sari et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Genome Sequencing Analysis of Liver Cancer for Precision Medicine.
Nakagawa Hidewaki et al. Seminars in cancer biology 2018 Mar - [Consensus statement on biomarkers in breast cancer by the Spanish Society of Pathology and the Spanish Society of Medical Oncology].
Palacios Calvo José et al. Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia 51(2) 97-109 - Disparities in genetics assessment for women with ovarian cancer: Can we do better?
Manrriquez Erica et al. Gynecologic oncology 2018 Apr 149(1) 84-88 - Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Schuh Anna et al. Cold Spring Harbor molecular case studies 2018 Apr 4(2) - Genetic testing for young women with breast cancer.
Metcalfe Kelly et al. The Lancet. Oncology 2018 Apr 19(4) e182 - Genetic testing for young women with breast cancer - Authors' reply.
Eccles Diana M et al. The Lancet. Oncology 2018 Apr 19(4) e183 - Journey from oncologist to cancer survivor and patient advocate in the era of precision medicine.
Needles Burton M et al. Cold Spring Harbor molecular case studies 2018 Apr 4(2) - Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.
Chahal Manik et al. Cold Spring Harbor molecular case studies 2018 Apr 4(2) - Introducing the Cancer Genome Interpreter
Genome Medicine Blog, Mar 2018 - The long tail of oncogenic drivers in prostate cancer.
Armenia Joshua et al. Nature genetics 2018 Apr - Cancer disparities
- Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance.
Niskakoski Anni et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Mar - Genetic Testing Helps Guide Treatment in Prostate Cancer
D Bucco, Onclive, Mar 28, 2018 - Tumor sequencing superior to other methods of detecting Lynch syndrome in colorectal cancer
Healio News, Mar 29, 2018 - Elisa Long, informed by personal experience, parses data to help those mulling mastectomy and gynecological surgeries
UCLA Anderson Review, Mar 2018 - What You Need to Know About Hereditary Colorectal Cancer
H Hampel blog post, Apr 3, 2018 - Cost effectiveness analysis of afatinib versus pemetrexed-cisplatin for first-line treatment of locally advanced or metastatic EGFR mutation positive non-small-cell lung cancer from the Singapore healthcare payer's perspective.
Tan Ping-Tee et al. BMC cancer 2018 Mar 18(1) 352 - ER+ breast cancers resistant to prolonged neoadjuvant letrozole exhibit an E2F4 transcriptional program sensitive to CDK4/6 inhibitors.
Guerrero-Zotano Angel et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Mar - Plasma DNA and Metastatic Castration-Resistant Prostate Cancer: The Odyssey to a Clinical Biomarker Test.
Jayaram Anuradha et al. Cancer discovery 2018 Apr 8(4) 392-394 - Understanding your risk factors for developing colorectal cancer
Times Herald-Record, Apr 2018 - Targetable Immune Biology Found in Some Patients With Early-Stage Prostate Cancer
C Doyle, ASCO Post, Mar 2018 - Association of family history and survival in patients with colorectal cancer: a pooled analysis of eight epidemiologic studies.
Chong Dawn Q et al. Cancer medicine 2018 Mar - Exploring the Feasibility and Utility of Exome-scale Tumour Sequencing in a Clinical Setting.
Lee Belinda et al. Internal medicine journal 2018 Apr - Molecular-genetic models for prognosis of development of tumors of reproductive system in women with family history of cancer.
Paliychuk O V et al. Experimental oncology 2018 Mar 40(1) 59-67 - Precision medicine in ALK rearranged NSCLC: A rapidly evolving scenario.
Addeo Alfredo et al. Critical reviews in oncology/hematology 2018 Feb 122150-156 - Men with a susceptibility to prostate cancer and the role of genetic based screening.
Eeles Rosalind et al. Translational andrology and urology 2018 Feb 7(1) 61-69 - Circulating tumour DNA, a promising biomarker for the management of colorectal cancer.
Khakoo Shelize et al. Critical reviews in oncology/hematology 2018 Feb 12272-82 - Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.
Schwartz Marc D et al. Breast cancer research and treatment 2018 Apr - Despite FDA Approvals of Direct-to-Consumer Tests, People Still Need to See Certified Genetic Counselors
K Powell, Genome Magazine, Mar 29, 2018 - High Expectations for Immunotherapy in GI Cancers- Immunotherapy may play a growing role in treating gastrointestinal cancers categorized as MSI-high.
A Weintraub, Cure Magazine, Mar 2018 - Should You Get Genetic Testing for Cancer Risk?
American Cancer Society, Apr 3, 2018
Chronic Disease
- Genetic Testing in Young Adult Patients With Idiopathic Acute Pancreatitis.
Culetto Adrian et al. The American journal of gastroenterology 2018 Apr 113(4) 624 - Genetic test utilization and diagnostic yield in adult patients with neurological disorders.
Bardakjian Tanya M et al. Neurogenetics 2018 Mar - The use of polygenic risk scores to identify phenotypes associated with genetic risk of bipolar disorder and depression: A systematic review.
Mistry Sumit et al. Journal of affective disorders 2018 Feb 234148-155 - Genetic Testing Preferences of Individuals in Families with Essential Tremor.
Naranjo Kelly V et al. Tremor and other hyperkinetic movements (New York, N.Y.) 2018 8545 - Prevalence of Diagnosed Diabetes in Adults by Diabetes Type - United States, 2016.
Bullard Kai McKeever et al. MMWR. Morbidity and mortality weekly report 2018 Mar 67(12) 359-361 - Exomechip Analyses Identify Genes Affecting Mortality after HLA-Matched Unrelated Donor Blood and Marrow Transplantation.
Zhu Qianqian et al. Blood 2018 Apr - Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children.
Bonifacio Ezio et al. PLoS medicine 2018 Apr 15(4) e1002548 - Polygenic Risk Scores in Clinical Psychology: Bridging Genomic Risk to Individual Differences.
Bogdan Ryan et al. Annual review of clinical psychology 2018 Mar - [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
Alfano Gaetano et al. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia 2018 Mar 35(2) - [Evolution of molecular genetic methods in the clinical diagnosis of hereditary endocrine tumour syndromes].
Sarkadi Balázs et al. Orvosi hetilap 2018 Feb 159(7) 285-292
Ethical, Legal and Social Issues (ELSI)
- Approvals in 2017: gene therapies and site-agnostic indications.
Blumenthal Gideon M et al. Nature reviews. Clinical oncology 2018 Mar 15(3) 127-128
General Practice
- A nursing theory-guided framework for genetic and epigenetic research.
Maki Katherine A et al. Nursing inquiry 2018 Apr e12238 - Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans Lisa J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - CRISPR/Cas9: the Jedi against the dark empire of diseases.
Khan Sehrish et al. Journal of biomedical science 2018 Mar 25(1) 29 - New literacy challenge for the twenty-first century: genetic knowledge is poor even among well educated.
Chapman Robert et al. Journal of community genetics 2018 Mar - The Key Role of Epigenetics in Human Disease Prevention and Mitigation.
Feinberg Andrew P et al. The New England journal of medicine 2018 Apr 378(14) 1323-1334 - Precision Medicine and Global Health: The Good, the Bad, and the Ugly.
Mentis Alexios-Fotios A et al. Frontiers in medicine 2018 567 - Does Lifestyle Genetic Testing Diminish Medical Genetics?
C Janssens and J Lu, Genome Magazine, Apr 3, 2018 - Genetic counselling in the era of genomic medicine
C Patch et al, British Med Bulletin, Apr 2018 - Finding the Code: The Race to Sequence the Human Genome and What It Means |
Your Tube Video, Apr 3, 2018 - Building Global Genomics Initiatives and Enabling Data Sharing: Insights from Multiple Case Studies.
Fusi Federica et al. Omics : a journal of integrative biology 2018 Mar - Reducing the cost of genome sequencing by a million-fold
NHGRI, DNA Day, Apr 5, 2018 - What is precision medicine
NIDDK Sound Cloud with E.Dishman, Mar 2018 - Genomics Specialist Careers: Meet the Clinical Bioinformaticians
Video, Genomics Education Program, UK, 2018 - Genetic Vulnerability of GPCRs: A Call to Action.
Liggett Stephen B et al. Trends in biochemical sciences 2018 Apr 43(4) 227-229 - Genetic counselors on the frontline of precision health.
Bamshad Michael J et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar - Genome "Surgery"?
Klein Marnie et al. The Hastings Center report 2018 Mar 48(2) inside front cover - "Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.
Skinner Debra et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar 20(3) 313-319 - Nutrigenomic Information in the openEHR Data Set.
Maranhão Priscila Alves et al. Applied clinical informatics 2018 Jan 9(1) 221-231 - Nobody is average but what to do about it? The challenge of individualized disease prevention based on genomics
MJ Khoury, CDC Blog - Single Genes, Panels, and Next-Generation Sequencing Platforms: A Financial Perspective.
Sireci Anthony N et al. Archives of pathology & laboratory medicine 2018 Mar - The Global Landscape of Nursing and Genomics.
Calzone Kathleen A et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2018 Apr
Heart, Lung, Blood and Sleep Diseases
- Genetic Ancestry for Sleep Research: Leveraging Health Inequalities to Identify Causal Genetic Variants.
Prasad Bharati et al. Chest 2018 Mar - Managing dyslipidaemia for the primary prevention of cardiovascular disease.
Ryan Aidan et al. BMJ (Clinical research ed.) 2018 360k946 - More Awareness of Familial Hypercholesterolemia and Severe Dyslipidemia, yet Statin Use Remains Low
Y Maxwell, tctMD, Mar 28, 2018 - Cardiovascular disease: The rise of the genetic risk score.
Knowles Joshua W et al. PLoS medicine 2018 Mar 15(3) e1002546 - Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014).
Bucholz Emily M et al. Circulation 2018 Mar - Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.
Martyn Gabriella E et al. Nature genetics 2018 Apr - Assessing Asthma Medication Responses in US Minority Children by Whole-genome Sequencing.
Lorenzo-Salazar José M et al. American journal of respiratory and critical care medicine 2018 Mar - Health literacy in familial hypercholesterolemia: A cross-national study.
Hagger Martin S et al. European journal of preventive cardiology 2018 Jan 2047487318766954 - Genetic Risk Prediction for Primary and Secondary Prevention of Atherosclerotic Cardiovascular Disease: an Update.
Labos Christopher et al. Current cardiology reports 2018 Mar 20(5) 36 - Type of Combined Contraceptives, Factor V Leiden Mutation and Risk of Venous Thromboembolism.
Hugon-Rodin Justine et al. Thrombosis and haemostasis 2018 Apr
Newborn Screening
- Newborn screening for Pompe disease: impact on families.
Pruniski B et al. Journal of inherited metabolic disease 2018 Mar - Too much information - should we sequence babies?
T Brigden, PHG Foundation, Mar 29, 2018 - Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Stroek Kevin et al. Molecular genetics and metabolism 2018 Mar
Pharmacogenomics
- Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population.
Mushiroda Taisei et al. JAMA neurology 2018 Apr - Role of CYP2C19 genotype testing in clinical use of clopidogrel: is it really useful?
Zeb Irfan et al. Expert review of cardiovascular therapy 2018 Apr 1-9 - The utility of pharmacogenetic testing to support the treatment of bipolar disorder.
Ielmini Marta et al. Pharmacogenomics and personalized medicine 2018 1135-42 - NIH launches HEAL Initiative, doubles funding to accelerate scientific solutions to stem national opioid epidemic
NIH News Release, Apr 4, 2018 - Genotyping Guidance AMP releases guidelines for cytochrome P450 allele testing
The Pathologist, Apr 2018 - Implementation of a pharmacist-led pharmacogenomics service for the Program of All-Inclusive Care for the Elderly (PHARM-GENOME-PACE).
Bain Kevin T et al. Journal of the American Pharmacists Association : JAPhA 2018 Mar - Pharmacogenomics and Patient Treatment Parameters to Opioid Treatment in Chronic Pain: A Focus on Morphine, Oxycodone, Tramadol, and Fentanyl.
Lloyd Renae A et al. Pain medicine (Malden, Mass.) 2017 Dec 18(12) 2369-2387
Reproductive Health
- Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.
Murphy Erin L et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 Mar - Adopted Individuals' Views on the Utility and Value of Expanded Carrier Screening.
Spencer Sara et al. Journal of genetic counseling 2018 Mar - Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles.
Friedenthal Jenna et al. Fertility and sterility 2018 Mar - Implementing carrier screening for cystic fibrosis outside the clinic: ethical analysis in the light of the personalist view.
Di Pietro M L et al. La Clinica terapeutica 169(2) e71-e76 - FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.
Owens Kailey M et al. American journal of medical genetics. Part A 2018 Mar - Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy.
Suzumori Nobuhiro et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Mar 224165-169 - Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber Aurélia et al. Clinical chemistry and laboratory medicine 2018 Apr 56(5) 728-738
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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