Publication Date: Mar 22, 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
- This little boy has a disease with no cure. His family is determined to fight back.
CJ Moss, Washington Post, March 17, 2018
- Living with multiple health problems: My Story
Kirsty, Genetic Alliance, Mar 19, 2018
- Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.
Flotats-Bastardas Marina et al. Neuropediatrics 2018 Mar
- First report of the efficacy of vestibular rehabilitation in improving function in patients with Neurofibromatosis type 2: an observational cohort study in a clinical setting.
Emmanouil Beatrice et al. Disability and rehabilitation 2018 Mar 1-7
- Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester David J et al. Journal of the American College of Cardiology 2018 Mar 71(11) 1217-1227
- Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad Aparna et al. BMC medical genetics 2018 Mar 19(1) 46
- Sudden Infant Death Syndrome and Genetics: Don't Throw Out the Infant With the Dirty Water.
Schwartz Peter J et al. Journal of the American College of Cardiology 2018 Mar 71(11) 1228-1230
- Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark Zornitza et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
- Caring for Hereditary Childhood Retinal Blindness.
Jauregui Ruben et al. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2018 Mar
- Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
Kline-Fath Beth M et al. Pediatric radiology 2018 Mar
- Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis.
Burgener Elizabeth B et al. Current opinion in pediatrics 2018 Mar
- Key Implications of Data Sharing in Pediatric Genomics.
Rahimzadeh Vasiliki et al. JAMA pediatrics 2018 Mar
- The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.
Goldman Amy et al. Journal of genetic counseling 2018 Mar
- Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker Jeannette C et al. Journal of inherited metabolic disease 2018 Mar
- World Down Syndrome Day: 21 Things You May Not Know About Down Syndrome
Family blog post, Mar 21, 2018
- At-home genetic testing may be convenient, but it isnt complete
SM Domcheck, Stat News, Mar 14, 2018
- Mainstreamed genetic testing for women with ovarian cancer: first-year experience.
Rahman Belinda et al. Journal of medical genetics 2018 Mar
- Functional Genomics Profiling of Bladder Urothelial Carcinoma MicroRNAome as a Potential Biomarker.
Li Wei Tse et al. Neoplasia (New York, N.Y.) 2018 Mar 20(4) 364-373
- Design and rational for the precision medicine guided treatment for cancer pain pragmatic clinical trial.
Mosley Scott A et al. Contemporary clinical trials 2018 Mar 687-13
- Investigating a multigene prognostic assay based on significant pathways for Luminal A breast cancer through gene expression profile analysis.
Gao Haiyan et al. Oncology letters 2018 Apr 15(4) 5027-5033
- The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivity testing in sarcoma.
Calvert Nicholas et al. Clinical sarcoma research 2018 84
- Potential Red-Flag Identification of Colorectal Adenomas with Wide-Field Fluorescence Molecular Endoscopy.
Hartmans Elmire et al. Theranostics 2018 8(6) 1458-1467
- Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.
Zidekova D et al. Neoplasma 2018 65(2) 309-315
- Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.
Gale Davina et al. PloS one 2018 13(3) e0194630
- Using the Cancer Moonshot to Conquer Cancer Disparities: A Model for Action.
Martínez María Elena et al. JAMA oncology 2018 Mar
- Marleahs Story
For Marleah, breast cancer at a young age runs in the family.
- Evaluation of a Streamlined Oncologist-Led BRCA Mutation Testing and Counseling Model for Patients With Ovarian Cancer.
Colombo Nicoletta et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Mar JCO2017762781
- Underutilization and disparities in access to EGFR testing among Medicare patients with lung cancer from 2010 - 2013.
Lynch Julie A et al. BMC cancer 2018 Mar 18(1) 306
- Clinical utility of miR-143/miR-182 levels in prognosis and risk stratification specificity of BFM-treated childhood acute lymphoblastic leukemia.
Piatopoulou Despina et al. Annals of hematology 2018 Mar
- From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.
Perera-Bel Júlia et al. Genome medicine 2018 Mar 10(1) 18
- Waiting in the wings: the emerging role of molecular biomarkers in bladder cancer.
Ilijazi Dafina et al. Expert review of molecular diagnostics 2018 Mar
- Using Genomic Sequencing to Improve Management in Melanoma.
Funchain Pauline et al. Oncology (Williston Park, N.Y.) 2018 32(3) 98-101, 104
- Translation of knowledge to practice - Improving awareness in NSCLC molecular testing.
Zer Alona et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Mar
- Cost-effectiveness of KRAS , EGFR and ALK testing for decision making in advanced nonsmall cell lung carcinoma: the French IFCT-PREDICT.amm study.
Loubière Sandrine et al. The European respiratory journal 2018 Mar 51(3)
- Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
Steinlein Ortrud K et al. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2018 Mar 16(3) 278-283
- Precision oncology in advanced cancer patients improves overall survival with lower weekly healthcare costs.
Haslem Derrick S et al. Oncotarget 2018 Feb 9(15) 12316-12322
- Clinical Relevance of Gene Copy Number Variation in Metastatic Clear Cell Renal Cell Carcinoma.
Nouhaud François-Xavier et al. Clinical genitourinary cancer 2018 Feb
- CDKN2A germline alterations in melanoma patients with personal or familial history of pancreatic cancer.
De Unamuno Blanca et al. Melanoma research 2018 Mar
- Pancreatic Cancer Subtypes: A Roadmap for Precision Medicine.
Torres Carolina et al. Annals of medicine 2018 Mar 1-18
- Association between physician characteristics and the use of 21-gene recurrence score genomic testing among Medicare beneficiaries with early-stage breast cancer, 2008-2011.
Wilson Lauren E et al. Breast cancer research and treatment 2018 Mar
- Appropriateness and yield of surveillance colonoscopy in first-degree relatives of colorectal cancer patients: A 5-year follow-up population-based study.
Armelao Franco et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 Feb
- CMS Announces Decision to Cover Genomic Testing for Patients With Cancer,
by Tony Hagen, Target Oncology, March 20, 2018
- Classifying BRAF alterations in cancer: new rational therapeutic strategies for actionable mutations.
Dankner Matthew et al. Oncogene 2018 Mar
- I have the scary cancer mutation. When should I have my breasts removed?
D Kunha, Washington Post, Mar 18, 2018
- Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing.
Chadwell Sarah E et al. Journal of genetic counseling 2018 Mar
- The resounding effect of DNA repair deficiency in prostate cancer.
Cheng Heather H et al. Urologic oncology 2018 Mar
- Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
F Girardi et al, Genetics in Medicine, Mar 22, 2018
- Hereditary Polyposis Syndromes: Opportunities for Early Detection in Individuals and Families.
Mahon Suzanne M et al. Clinical journal of oncology nursing 2018 Apr 22(2) 151-156
- Promoting BRCA Awareness
DR White Onc Nursing New, Mar 15, 2018
- Genetics of HbA1c: a case study in clinical translation.
Leong Aaron et al. Current opinion in genetics & development 2018 Mar 5079-85
- Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Zengini Eleni et al. Nature genetics 2018 Mar
- The genetics of adiposity.
Loos Ruth Jf et al. Current opinion in genetics & development 2018 Mar 5086-95
- Genetic Variants Involved in Bipolar Disorder, a Rough Road Ahead.
Orrù Germano et al. Clinical practice and epidemiology in mental health : CP & EMH 2018 1437-45
- Rare variants in drug target genes contributing to complex diseases, phenome-wide.
Verma Shefali Setia et al. Scientific reports 2018 Mar 8(1) 4624
- Developing Shared Appraisals of Diabetes Risk Through Family Health History Feedback: The Case of Mexican-Heritage Families.
Lin Jielu et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2018 Feb 52(3) 262-271
Ethical, Legal and Social Issues (ELSI)
- Please Test My Child for a Cancer Gene, but Don't Tell Her.
Bester Johan et al. Pediatrics 2018 Mar
- Opinion: No, FDA Didnt Really Approve BRCA Test-Rather, the breast cancer mutation screen was classified as a type of medical device with obligations for the company to reduce risks to customers.
C Janssens, The Scientist, Mar 19, 2018
- Direct-to-Consumer Test for BRCA Mutations Authorized.
et al. Cancer discovery 2018 Mar
- Rethink public engagement for gene editing
S Burall, Nature, Mar 21, 2018
- The importance of cohort studies in the post-GWAS era.
Wijmenga Cisca et al. Nature genetics 2018 Mar
- From genome-wide association studies to Mendelian randomization: Novel opportunities for understanding cardiovascular disease causality, pathogenesis, prevention, and treatment.
Benn Marianne et al. Cardiovascular research 2018 Feb
- Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.
Jain Abhinav et al. Molecular genetics and genomics : MGG 2018 Mar
- Medical genetics: Towards precision medicine.
Jin Peng et al. Journal of genetics and genomics = Yi chuan xue bao 2018 Feb 45(2) 55-56
- Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop
NASEM workshop report, Mar 16, 2018
- Integrative Analysis of Omics Big Data.
Yu Xiang-Tian et al. Methods in molecular biology (Clifton, N.J.) 2018 1754109-135
- Leap of Faith or Smart Investment? Early Integration of Whole Genome Sequencing in Healthcare Systems
WG Feero et al, CDC Blog Post, Mar 16, 2018
- Big Data Analytic, Big Step for Patient Management and Care in Puerto Rico.
Borrero Ernesto E et al. Puerto Rico health sciences journal 37(1) 62-63
- A population genetic interpretation of GWAS findings for human quantitative traits.
Simons Yuval B et al. PLoS biology 2018 Mar 16(3) e2002985
- Precision Medicine, Genome Sequencing, and Improved Population Health.
Feero W Gregory et al. JAMA 2018 Mar
- The ACMG/AMP reputable source criteria for the interpretation of sequence variants.
Biesecker Leslie G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
- Whats Behind Many Mystery Ailments? Genetic Mutations, Study Finds
C Zimmer, NY Times, Mar 15,2018
- Direct-to-consumer genetic testing
TGMI, Mar 16, 2018
- Survey on the perception of germline genome editing among the general public in Japan.
Uchiyama Masato et al. Journal of human genetics 2018 Mar
- Simplifying research access to genomics and health data with Library Cards.
Cabili Moran N et al. Scientific data 2018 Mar 5180039
- Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network.
Splinter Kimberly et al. Clinical and translational science 2018 Jan 11(1) 28-31
- A FAIR guide for data providers to maximise sharing of human genomic data.
Corpas Manuel et al. PLoS computational biology 2018 Mar 14(3) e1005873
- Population genetics and GWAS: A primer.
Gibson Greg et al. PLoS biology 2018 Mar 16(3) e2005485
- Accelerating precision medicine through genetic and genomic big data analysis.
Cai Yudong et al. Biochimica et biophysica acta 2018 Mar
- Electronic health records: the next wave of complex disease genetics.
Wolford Brooke N et al. Human molecular genetics 2018 Mar
- Next-Generation Data Science Research Challenges
P Brennan, NLM, Mar 20, 2018
- Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.
Perkins Bradley A et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Mar
- Development and Validation of the Genetic Counseling Self-Efficacy Scale (GCSES).
Caldwell Sarah et al. Journal of genetic counseling 2018 Mar
- The Struggle to Build a Massive Biobank of Patient Data
G Kolata, Mar 19, 2018
- The Dish | Update on All of Us's Genomics Plan
NIH, Mar 21, 2018 video
Heart, Lung, Blood and Sleep Diseases
- Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar
- What is an inhibitor?
All people with hemophilia and VWD type 3 are at risk for developing an inhibitor ? an antibody ? to treatment used to stop or to prevent a bleeding episode: Anthony's story.
- Current Approaches for Phenotyping as a Target for Precision Medicine in COPD Management.
Lopez-Campos Jose Luis et al. COPD 2018 Mar 1-10
- Sickle cell disease.
Kato Gregory J et al. Nature reviews. Disease primers 2018 Mar 418010
- A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot Justin O et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e001978
- Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Hazebroek Mark R et al. Circulation. Heart failure 2018 Mar 11(3) e004682
- Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.
Paige Sharon L et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e002097
- Genetic basis of arrhythmogenic cardiomyopathy.
Karmouch Jennifer et al. Current opinion in cardiology 2018 Mar
- Hypercholesterolemia in children: Why and how to screen for it?
Girardet J-P et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Mar
- Primary prevention of cardiovascular disease: The past, present, and future of blood pressure- and cholesterol-lowering treatments.
Leening Maarten J G et al. PLoS medicine 2018 Mar 15(3) e1002539
- The Use of Dried Blood Spots: A Potential Tool for the Introduction of a Neonatal Screening Program for Sickle Cell Anemia in Zambia.
Chindima Nanjela et al. International journal of applied & basic medical research 8(1) 30-32
- Nutritional Status the First Two Years of Life in Cystic Fibrosis Diagnosed by Newborn Screening.
Munck Anne et al. Journal of pediatric gastroenterology and nutrition 2018 Mar
- A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao Cheng-Yu et al. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2018 Mar
- Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia.
et al. Indian journal of pediatrics 2018 Mar
- The Journey of Newborn Screening: Inception to Conclusion.
et al. Indian journal of pediatrics 2018 Mar
- Pharmacogenetic variants and vitamin K deficiency: a risk factor or trigger for fibrosing interstitial pneumonias?
Drent Marjolein et al. Current opinion in pulmonary medicine 2018 Mar
- CYP2D6 Pharmacogenetics Testing and Post-Cesarean Section Pain Scores-a Preliminary Study.
Ribeiro Carolina et al. Pain medicine (Malden, Mass.) 2018 Mar
- Current progress of tacrolimus dosing in solid organ transplant recipients: Pharmacogenetic considerations.
Zhang Xiao et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2018 Mar 102107-114
- A rationale for biopsying embryos reaching the morula stage on Day 6 in women undergoing preimplantation genetic testing for aneuploidy.
Irani M et al. Human reproduction (Oxford, England) 2018 Mar
- Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients.
Popescu F et al. Human reproduction (Oxford, England) 2018 Mar
- Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China.
Suo Feng et al. Clinica chimica acta; international journal of clinical chemistry 2018 Mar 481139-141
- Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.
Gray Kathryn J et al. Pediatric radiology 2018 Apr 48(4) 461-470
- Team counseling in prenatal evaluation: the partnership of the radiologist and genetic counselor.
Menzel Margaret B et al. Pediatric radiology 2018 Apr 48(4) 457-460
- Evaluation of preimplantation genetic testing for chromosomal structural rearrangement by a commonly used next generation sequencing workflow.
Chow Judy F C et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Mar 22466-73
- Testing for genetic contributions to infertility: potential clinical impact.
Krausz C et al. Expert review of molecular diagnostics 2018 Mar
- New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities.
Filoche Sara et al. Journal of primary health care 2017 Dec 9(4) 248-253
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2018 Mar 3CD010849
- A retrospective exploratory study of fetal genetic invasive procedures at a University Hospital.
Andrew Chitra et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2018 Mar 1-5
- Talking Points: Women's Information Needs for Informed Decision-Making About Noninvasive Prenatal Testing for Down Syndrome.
Dane Aimée C et al. Journal of genetic counseling 2018 Mar
- All of Us Research Priorities Workshop
NIH, Meeting, Mar 21-23, 2018
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.
Genomics & Health Impact Scan Database|Weekly Scan|PHGKB
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