Published on 03/22/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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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 -
World Down Syndrome Day: 21 Things You May Not Know About Down Syndrome
Family blog post, Mar 21, 2018
Cancer
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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.
Girardi Fabio, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 0. -
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
Chronic Disease
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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
Ethics/Policy/Law
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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.
Burall Simon, et al. Nature 2018 3 0. (7697) 438-439
Practice
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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 -
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 -
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, the New York Times, Mar 19, 2018 -
The Dish | Update on All of Us's Genomics Plan
NIH, Mar 21, 2018 video
Heart, Lung, Blood and Sleep Diseases
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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
Newborn Screening
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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
Pharmacogenomics
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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
Reproductive Health
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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