Published on 11/16/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro Lucy et al. European journal of endocrinology 2017 Dec 177(6) 485-501 -
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller Kerry A et al. Journal of medical genetics 2017 Apr 54(4) 260-268 -
Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).
Somanadhan S et al. Orphanet journal of rare diseases 2016 11(1) 138 -
Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
Forestier-Zhang Lydia et al. Orphanet journal of rare diseases 2016 11(1) 160 -
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed Hisham et al. Orphanet journal of rare diseases 2016 11(1) 57 -
Family-centred care for families living with cystic fibrosis in a rural setting: A qualitative study.
Jessup Melanie et al. Journal of clinical nursing 2017 Oct -
Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.
Al Sabbah Haleama et al. International journal of women's health 2017 9673-679 -
Roadmap for an early gene therapy for cystic fibrosis airway disease.
Carlon Marianne S et al. Prenatal diagnosis 2017 Oct -
22q11 deletion syndrome: Parents' and children's experiences of educational and healthcare provision in the United Kingdom.
Cohen Wendy et al. Journal of child health care : for professionals working with children in the hospital and community 2017 Jun 21(2) 142-152 -
The psychological impact of genetic information on children: a systematic review.
Wakefield Claire E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug 18(8) 755-62 -
Ethics of children's participation in a Saudi biobank: an exploratory survey.
Alahmad Ghiath et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug 18(8) 806-13 -
Monogenic Diseases of DNA Repair.
Keijzers Guido et al. The New England journal of medicine 2017 377(19) 1868-1876 -
Rare genetic diseases: update on diagnosis, treatment and online resources.
Pogue Robert E et al. Drug discovery today 2017 Nov -
From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.
Beal Marc A et al. Mutation research 2017 Jul 77326-50 -
Thirty Years of Sweat Chloride Testing at One Referral Center.
Faria Alethéa Guimarães et al. Frontiers in pediatrics 2017 5222
Cancer
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The FDA Oncology Center of Excellence and precision medicine.
Goldberg Kirsten B et al. Experimental biology and medicine (Maywood, N.J.) 2017 Jan 1535370217740861 -
Bilingual approach to online cancer genetics education for Deaf American Sign Language users produces greater knowledge and confidence than English text only: A randomized study.
Palmer Christina G S et al. Disability and health journal 2017 Jan 10(1) 23-32 -
Immunohistochemical Pitfalls: Common Mistakes in the Evaluation of Lynch Syndrome.
Markow Michael et al. Surgical pathology clinics 2017 Dec 10(4) 977-1007 -
Economic Analysis of First-Line Treatment with Erlotinib in an EGFR-Mutated Population with Advanced NSCLC.
Vergnenegre Alain et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016 Jun 11(6) 801-7 -
A Bayesian scoring rule on clustered event data for familial risk assessment - An example from colorectal cancer screening.
Rieger Anna K et al. Biometrical journal. Biometrische Zeitschrift 2017 Nov -
Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.
Li Shuyu D et al. Genome medicine 2017 Oct 9(1) 89 -
Budget impact analysis of gene expression tests to aid therapy decisions for breast cancer patients in Germany.
Lux M P et al. Breast (Edinburgh, Scotland) 2017 Nov 3789-98 -
Implementation of precision medicine in clinical trials in thoracic oncology: Which are the hurdles?
Scagliotti Giorgio V et al. Cancer 2017 Nov -
Real-World Evidence and Randomized Studies in the Precision Oncology Era: The Right Balance
B Gyawali et al, JCO Precision Oncology, Nov 2017 -
Feasibility of structured endurance training and Mediterranean diet in BRCA1 and BRCA2 mutation carriers - an interventional randomized controlled multicenter trial (LIBRE-1).
Kiechle Marion et al. BMC cancer 2017 Nov 17(1) 752 -
Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.
Powers Benjamin et al. Surgical oncology clinics of North America 2018 Jan 27(1) 1-22 -
EGFR mutation prevalence in Asia-Pacific and Russian patients with advanced NSCLC of adenocarcinoma and non-adenocarcinoma histology: The IGNITE study.
Han Baohui et al. Lung cancer (Amsterdam, Netherlands) 2017 Nov 11337-44 -
Basket Studies: Redefining Clinical Trials in the Era of Genome-Driven Oncology.
Tao Jessica J et al. Annual review of medicine 2017 Nov -
Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort.
González María Laura et al. Familial cancer 2017 Nov -
The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer.
Castro Elena et al. The oncologist 2016 Jun 21(6) 716-22 -
The International Association for the Study of Lung Cancer Consensus Statement on Optimizing Management of EGFR Mutation-Positive Non-Small Cell Lung Cancer: Status in 2016.
Tan Daniel S W et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016 Jul 11(7) 946-63 -
The complexity of interpreting genomic data in patients with acute myeloid leukemia.
Nazha A et al. Blood cancer journal 2016 Dec 6(12) e510 -
When should patients undergo genetic testing for hereditary colon cancer syndromes?
Idos Gregory et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2017 Nov -
Tumor molecular profiling of NSCLC patients using next generation sequencing.
Tsoulos Nikolaos et al. Oncology reports 2017 Dec 38(6) 3419-3429 -
Impact of ABCB1 and CYP2D6 polymorphisms on tamoxifen treatment outcomes and adverse events in breast cancer patients.
Argalacsova Sona et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 22(5) 1217-1226 -
Status of Testing for High-Level Microsatellite Instability/ Deficient Mismatch Repair in Colorectal Carcinoma.
Hamilton Stanley R et al. JAMA oncology 2017 Nov e173574 -
Woman who put her exhaustion down to her busy lifestyle discovers she has bowel cancer at 32 which doctors missed for a whole year because they thought she was 'too young' to get it
Daily Mail, Nov 10, 2017 -
Gene Editing Provides Clues to Why Cancer Immunotherapy Often Fails.
Hampton Tracy et al. JAMA 2017 Nov 318(17) 1641-1642 -
Current and Future Roles of PARP Inhibitors in Ovarian Cancer
J Na, Cancer Therapy Advisor, Nov 9, 2017 -
Colorectal Cancer Family History
CDC YouTube Video -
Mismatch Repair Deficiency Testing in Patients With Colorectal Cancer and Nonadherence to Testing Guidelines in Young Adults.
Shaikh Talha et al. JAMA oncology 2017 Nov e173580 -
Genetic polymorphisms and lung cancer risk: Evidence from meta-analyses and genome-wide association studies.
Liu Caiyang et al. Lung cancer (Amsterdam, Netherlands) 2017 Nov 11318-29 -
Genomic Markers in Prostate Cancer Decision Making.
Cucchiara Vito et al. European urology 2017 Nov -
First Prospective Multicenter Italian Study on the Impact of the 21-Gene Recurrence Score in Adjuvant Clinical Decisions for Patients with ER Positive/HER2 Negative Breast Cancer.
Dieci Maria Vittoria et al. The oncologist 2017 Nov -
Precision Oncology Beyond Targeted Therapy: Combining Omics Data with Machine Learning Matches the Majority of Cancer Cells to Effective Therapeutics.
Ding Michael Q et al. Molecular cancer research : MCR 2017 Nov -
Precision medicine for urothelial bladder cancer: update on tumour genomics and immunotherapy.
Felsenstein Kenneth M et al. Nature reviews. Urology 2017 Nov -
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan Daniel D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov -
Discordance between oncotype DX recurrence score and RSPC for predicting residual risk of recurrence in ER-positive breast cancer.
Dodson Andrew et al. Breast cancer research and treatment 2017 Nov -
Investigating Uncertainty in Genetic Counseling Encounters: Managing Information About Genetic Cancer Risk.
Rauscher Emily A et al. Journal of health communication 2017 Nov 1-9 -
Clinical and translational implications of RET rearrangements in non-small cell lung cancer.
Ferrara Roberto et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Nov -
Molecular Tumor Boards: Realizing Precision Oncology Therapy.
Patel Maulik et al. Clinical pharmacology and therapeutics 2017 Nov -
A seven-gene prognostic signature for rapid determination of head and neck squamous cell carcinoma survival.
Shen Sipeng et al. Oncology reports 2017 Dec 38(6) 3403-3411 -
An NRG Oncology/GOG study of molecular classification for risk prediction in endometrioid endometrial cancer.
Cosgrove Casey M et al. Gynecologic oncology 2017 Nov -
The emerging roles of NGS-based liquid biopsy in non-small cell lung cancer.
Zhang Yi-Chen et al. Journal of hematology & oncology 2017 Oct 10(1) 167 -
Preoperative genetic testing in pheochromocytomas and paragangliomas influences the surgical approach and the extent of adrenal surgery.
Nockel Pavel et al. Surgery 2017 Nov -
Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population.
O'Neill Suzanne C et al. Familial cancer 2017 Nov -
From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.
Augusto Bianca M et al. Journal of community genetics 2017 Nov -
Liquid Biopsy and Therapeutic Targets: Present and Future Issues in Thoracic Oncology.
Hofman Paul et al. Cancers 2017 Nov 9(11)
Chronic Disease
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Precision medicine in addiction research: where has the time gone?
Oliver Jason A et al. Addiction (Abingdon, England) 2017 Dec 112(12) 2096-2097 -
A five-year model to assess the early cost-effectiveness of new diagnostic tests in the early diagnosis of rheumatoid arthritis.
Buisman Leander R et al. Arthritis research & therapy 2016 Jun 18(1) 135 -
Nutritional Epigenetics: Your Genes Are Not Your Destiny
N Urdhal, University of Michigan, November, 2017 -
Treatment response heterogeneity in asthma: the role of genetic variation.
Vijverberg Susanne J H et al. Expert review of respiratory medicine 2017 Nov -
Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach.
Ruderfer Douglas M et al. The lancet. Psychiatry 2016 Apr 3(4) 350-7 -
The Secret to Long Life? It May Lurk in the DNA of the Oldest Among Us
A Harmon, NY Times, Nov 13, 2017 -
Tolvaptan and Autosomal Dominant Polycystic Kidney Disease.
Ingelfinger Julie R et al. The New England journal of medicine 2017 Nov 377(20) 1988-1989 -
Quitting Can Make You a Winner
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Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.
Owolabi Mayowa et al. Journal of the neurological sciences 2017 Nov 38218-28 -
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Kherra Sakina et al. Swiss medical weekly 2017 Nov 147w14535 -
The Dangers of Direct-to-Consumer Genetic Testing for Alzheimer's Disease : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Lacaze Paul et al. Journal of bioethical inquiry 2017 Nov -
Study Points to Value of Genetic Testing in Epilepsy: But genetic testing guidelines and insurance coverage are lacking.
et al. American journal of medical genetics. Part A 2017 Dec 173(12) 3123-3124 -
Pharmacogenetic and pharmacogenomic considerations of asthma treatment.
Matera Maria Gabriella et al. Expert opinion on drug metabolism & toxicology 2017 Nov 13(11) 1159-1167 -
Genes for Healthy Aging Found
Gen News Highlights, Nov 10, 2017
Ethics/Policy/Law
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Accepting adoption's uncertainty: the limited ethics of pre-adoption genetic testing.
Leighton Kimberly J et al. Journal of bioethical inquiry 2014 Jun 11(2) 245-60 -
FDA unveils a streamlined path for the authorization of tumor profiling tests alongside its latest product action-
Newly authorized test detects genetic cancer mutations in 468 unique genes
FDA, November 15, 2017 -
Unfair discrimination in prenatal aneuploidy screening using cell-free DNA?
Fröhlich E P et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Nov -
Disclosure of genetic information to relatives: balancing confidentiality and relatives' interests.
Lucassen Anneke et al. Journal of medical genetics 2017 Nov -
Ethics and Epistemology of Big Data.
Lipworth Wendy et al. Journal of bioethical inquiry 2017 Nov -
Paving the road to personalized medicine: recommendations on regulatory, intellectual property and reimbursement challenges.
Knowles Lori, et al. Journal of law and the biosciences 2017 12 0. (3) 453-506
Practice
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Statement from FDA Commissioner Scott Gottlieb, M.D., on implementation of agencys streamlined development and review pathway for consumer tests that evaluate genetic health risks
FDA, Nov 6, 2017 -
The Evolution of Targeted Interventions in the Age of Precision Medicine.
Rabi Doreen M et al. The Canadian journal of cardiology 2017 33(5) 597-600 -
The Future Emerges from the Past : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Halovic Shaun et al. Journal of bioethical inquiry 2017 Nov -
Committee Opinion No. 724 Summary: Consumer Testing for Disease Risk.
et al. Obstetrics and gynecology 2017 Nov 130(5) 1176-1177 -
Participants and Study Decliners' Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing.
Robinson Jill Oliver et al. Journal of empirical research on human research ethics : JERHRE 2016 Feb 11(1) 21-30 -
Consumer use and response to online third-party raw DNA interpretation services.
Wang Catharine, et al. Molecular genetics & genomic medicine 2018 0 0. (1) 35-43 -
Expanding Role for Genetic Counselors: Good for Our Profession, Great for Our Patients
E Ramos, ASHG Blog Post, Nov 2017 -
You Can Get Your DNA Tested At An NFL Game. Should You?
By Doug Levy, NPR, November 8, 2017 -
A gene-editing first: Scientists try to edit a living humans DNA
M Marchione, Genetic Literacy Project, Nov 15, 2017 -
Challenges in Implementing Personalized Care Planning-Reply.
Edwards Samuel T et al. JAMA 2017 318(17) 1713-1714 -
Precision medicine for all? Challenges and opportunities for a precision medicine approach to critical illness.
Seymour Christopher W et al. Critical care (London, England) 2017 Oct 21(1) 257 -
Improving Direct-to-Consumer Medical Testing-Reply.
Rockwell Kimberly Lovett et al. JAMA 2017 318(16) 1613-1614 -
Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories.
Ackerman Sara et al. AJOB empirical bioethics 2017 Nov 0 -
Predictors of adverse psychological experiences surrounding genome-wide profiling for disease risk.
Broady K M et al. Journal of community genetics 2017 Nov -
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.
Rocha Heather Mae et al. Journal of genetic counseling 2017 Nov -
Patient outcomes of genetic counseling: assessing the impact of different approaches to family history collection.
Slomp C et al. Clinical genetics 2017 Nov -
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Tang Clara Sze-Man et al. Human genetics 2017 Nov -
Prospects for using risk scores in polygenic medicine.
Lewis Cathryn M et al. Genome medicine 2017 Nov 9(1) 96 -
This Women-Driven Field Is Changing Health Care- Ninety-five percent of genetic counselors are women.
C Nazareth, US News, Nov 9, 2017
Heart, Lung, Blood and Sleep Diseases
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A 45-SNP genetic risk score is increased in early-onset coronary artery disease but independent of familial disease clustering.
Christiansen Morten K et al. Atherosclerosis 2017 Feb 257172-178 -
2017 FH Global Summit At-a-Glance
The FH Foundation, November 2017 -
Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease
AV Khera et al, BioRXIV, Nov 15, 2017 -
Sudden Cardiac Arrest during Participation in Competitive Sports.
Landry Cameron H et al. The New England journal of medicine 2017 Nov 377(20) 1943-1953 -
Towards Cardio-Precision medicine.
Sayed Nazish et al. European heart journal 2017 Apr 38(14) 1014-1016
Newborn Screening
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Access to Primary Care and Subspecialty Care After Positive Cystic Fibrosis Newborn Screening.
Parker-McGill Katelyn et al. WMJ : official publication of the State Medical Society of Wisconsin 2016 115(6) 295-9 -
Cystic fibrosis newborn screening: outcome of infants with normal sweat tests.
Edmondson Claire et al. Archives of disease in childhood 2017 Nov -
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
King Jovanka R et al. Journal of clinical immunology 2017 Nov -
Precision newborn screening for lysosomal disorders.
Minter Baerg Melissa M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov -
A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)
HB Gaspar, Int. J. Neonatal Screen. 2017, 3(4), 29;
Pharmacogenomics
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Pharmacogenomic biomarkers as inclusion criteria in clinical trials of oncology-targeted drugs: a mapping of ClinicalTrials.gov.
Vivot Alexandre et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug 18(8) 796-805 -
A Phamacoeconomic Analysis of Personalized Dosing vs Fixed Dosing of Pembrolizumab in Firstline PD-L1-Positive Non-Small Cell Lung Cancer.
Goldstein Daniel A et al. Journal of the National Cancer Institute 2017 Nov 109(11) -
Pharmacogenetic considerations for HIV treatment in different ethnicities: an update.
Neary M et al. Expert opinion on drug metabolism & toxicology 2017 Nov 13(11) 1169-1181
Reproductive Health
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Has non-invasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
Hill Melissa et al. Prenatal diagnosis 2017 Nov -
Preimplantation genetic testing: current challenges and future prospects.
Kuliev Anver et al. Expert review of molecular diagnostics 2017 Nov 1-18 -
Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study.
Chan Noni et al. BJOG : an international journal of obstetrics and gynaecology 2017 Nov -
Economic analysis of prenatal screening strategies for Down syndrome in singleton pregnancies in Turkey.
Ökem Zeynep Güldem et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Oct 21940-44 -
Review of Patient Decision-Making Factors and Attitudes Regarding Preimplantation Genetic Diagnosis.
Genoff Garzon Margaux C et al. Clinical genetics 2017 Nov -
Compelling Reasons for Repairing Human Germlines.
Church George et al. The New England journal of medicine 2017 Nov 377(20) 1909-1911 -
Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Badeau Mylène et al. The Cochrane database of systematic reviews 2017 Nov 11CD011767 -
Women's Preference For Non-Invasive Prenatal DNA Testing (NIPT) Versus Chromosomal Microarray After Screening For Down Syndrome: A Prospective Study.
Cheng Yvonne Kwun Yue et al. BJOG : an international journal of obstetrics and gynaecology 2017 Nov -
Sex discordance identification following non-invasive prenatal testing.
Richardson Ebony J et al. Prenatal diagnosis 2017 Nov -
Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18.
Wallace Stephanie E et al. Journal of genetic counseling 2017 Oct -
Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.
Jiang Fan et al. Hemoglobin 2017 Nov 1-6 -
Prenatal and Postnatal Genetic Testing: Why, How, and When?
Stoler Joan M et al. Pediatric annals 2017 Nov 46(11) e423-e427