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
- Three strikes, then a home run: Paige's path to a diagnosis
S Buckles, Mayo Clinic Individualized Medicine Blog, Dec 18, 2017 - Cystic fibrosis: Discovery of a key molecule for improving treatments
Frontiers Blog, Dec 20, 2017 - Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program.
Malik Rizwan et al. Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 31(4) 247-249 - Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy.
Lodi Mariachiara et al. Hemoglobin 2017 Dec 1-4 - Structural and sequence variants in patients with Silver-Russell syndrome or similar features - Curation of a disease database.
Tümer Zeynep et al. Human mutation 2017 Dec - Sharing a Story of Hope
NIH Director's Blog, Dec 19, 2017 - The genetics of congenitally small brains.
Duerinckx Sarah et al. Seminars in cell & developmental biology 2017 Sep - The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis.
Has Cristina et al. Acta dermato-venereologica 2017 Dec - HLA-DQ genetics in children with Celiac disease: A meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains.
De Silvestri Annalisa et al. Pediatric research 2017 Dec - Responsible Precision Medicine in Pediatric Acute Respiratory Distress Syndrome: The Challenge of Searching for Biomarker-Driven Earlier Diagnosis, Effective Treatment, and Stratified Outcomes.
Marraro Giuseppe A et al. Critical care medicine 2018 Jan 46(1) 172-174
Cancer
- Precision Medicine and Testing for Tumor Biomarkers-Are All Tests Born Equal?
Hayes Daniel F et al. JAMA oncology 2017 Dec - Unusual Prenatal Genomic Results Provide Proof-of-Principle of the Liquid Biopsy for Cancer Screening.
Bianchi Diana W et al. Clinical chemistry 2017 Dec - Predictors of survival for breast cancer patients with a BRCA1 mutation.
Narod Steven A et al. Breast cancer research and treatment 2017 Dec - I Am Alive and Kickin: An Interview With Lynch Syndrome and Colon Cancer Survivor David Dubin
The Colon Cancer Podcast, Nov 2017 - Clinical Application of Detecting 21-Gene Recurrence Score in Predicating Prognosis and Therapy Response of Patients with Breast Cancer from Two Medical Centers.
Xiao Guodong et al. Cancer investigation 2017 Nov 35(10) 639-646 - Future cancer research priorities in the USA: a Lancet Oncology Commission.
Jaffee Elizabeth M et al. The Lancet. Oncology 2017 Nov 18(11) e653-e706 - Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
Capoluongo Ettore et al. Seminars in oncology 2017 Jun 44(3) 187-197 - Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable to an age- and gender-matched control population: case-control study with expert pathology review.
Vleugels Jasper L A et al. Gastrointestinal endoscopy 2017 Dec - Gene-Environment Research and Cancer Epidemiology
Risk of most cancer types are determined by a complex interplay of genetic and environmental factors, NCI 2017 - Whole tumor section quantitative image analysis maximizes between-pathologists' reproducibility for clinical immunohistochemistry-based biomarkers.
Barnes Michael et al. Laboratory investigation; a journal of technical methods and pathology 2017 Dec 97(12) 1508-1515 - BRCA1+ carrier: Why I chose prophylactic surgery
J McCarthy, MD Anderson Blog, Dec 15, 2017 - Oncotype DX® in breast cancer patients: clinical experience, outcome and follow-up-a case-control study.
Rath Michelle G et al. Archives of gynecology and obstetrics 2017 Dec - Diagnostic markers for the detection of ovarian cancer in BRCA1 mutation carriers.
Gschwantler-Kaulich Daphne et al. PloS one 2017 12(12) e0189641 - A single mitochondrial DNA deletion accurately detects significant prostate cancer in men in the PSA 'grey zone'.
Creed Jennifer et al. World journal of urology 2017 Dec - Health care professionals' attitudes towards population-based genetic testing and risk-stratification for ovarian cancer: a cross-sectional survey.
Hann Katie E J et al. BMC women's health 2017 Dec 17(1) 132 - Genetics in palliative oncology: a missing agenda? A review of the literature and future directions.
Morrow April et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2017 Dec - Provider Discussions of Genetic Tests With U.S. Women at Risk for a BRCA Mutation.
Hull Leland E et al. American journal of preventive medicine 2017 Dec - Patient-Paired Sample Congruence Between 2 Commercial Liquid Biopsy Tests.
Torga Gonzalo et al. JAMA oncology 2017 Dec - Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review?.
Fournier Danielle M et al. Oncology nursing forum 2018 Jan 45(1) 96-105 - Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome.
Cloyd Jordan M et al. Journal of gastrointestinal cancer 2017 Dec - Phase 2 Trial of Gemcitabine, Cisplatin, plus Ipilimumab in Patients with Metastatic Urothelial Cancer and Impact of DNA Damage Response Gene Mutations on Outcomes.
Galsky Matthew D et al. European urology 2017 Dec - Using Social Media Data to Understand the Impact of Promotional Information on Laypeople's Discussions: A Case Study of Lynch Syndrome.
Bian Jiang et al. Journal of medical Internet research 2017 Dec 19(12) e414 - Provider Discussions of Genetic Tests With U.S. Women at Risk for a BRCA Mutation.
Hull Leland E et al. American journal of preventive medicine 2017 Dec - Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.
Udagawa Chihiro et al. Cancer science 2017 Dec - Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.
Lobo Miriam et al. Journal of genetic counseling 2017 Dec - Marshalling the translational potential of MC1R for precision risk assessment of melanoma.
Kanetsky Peter A et al. Cancer prevention research (Philadelphia, Pa.) 2017 Dec - Germline BRCA mutation in male carriers-ripe for precision oncology?
Leão Ricardo Romão Nazário et al. Prostate cancer and prostatic diseases 2017 Dec - Predictors of survival for breast cancer patients with a BRCA1 mutation.
Narod Steven A et al. Breast cancer research and treatment 2017 Dec - Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing.
Kim Annette S et al. JAMA oncology 2017 Dec - Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer.
Lawler Mark et al. Gut 2018 Jan 67(1) 179-193
Chronic Disease
- The Knowns and Unknowns about Amyotrophic Lateral Sclerosis (ALS)
CDC Environmental Health Blog, 2017 - Kidney Disease and Your Heart: What’s the Connection?
- Genetics of Anorexia Nervosa.
Baker Jessica H et al. Current psychiatry reports 2017 Sep 19(11) 84 - Genetic epidemiology of eating disorders.
Bulik Cynthia M et al. Current opinion in psychiatry 2016 Nov 29(6) 383-8 - Epileptic Seizure Prediction Using Big Data and Deep Learning: Toward a Mobile System
I Kiral-Kornek et al, EBiomedicine, Dec 2017 - Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens.
Krishnappa Vinod et al. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2017 Dec - Lessons from CKD-Related Genetic Association Studies-Moving Forward.
Limou Sophie et al. Clinical journal of the American Society of Nephrology : CJASN 2017 Dec - The Anorexia Nervosa Genetics Initiative: Overview and Methods
LM Thornton et al, BioRXIV preprints, Dec 2017
Ethical, Legal and Social Issues (ELSI)
- Narrative Identity in Third Party Reproduction: Normative Aspects and Ethical Challenges.
Lima Natacha Salomé et al. Journal of bioethical inquiry 2017 Dec - Genomics England's implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom's 100,000 Genomes project and the need for public support.
Samuel Gabrielle Natalie et al. Public understanding of science (Bristol, England) 2017 Dec 963662517747200 - FDA approves first gene therapy targeting rare form of inherited blindness
Stat News, Dec 19, 2017 - Possible barriers for genetic counselors returning actionable genetic research results across state lines.
Roberts Megan C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov 19(11) 1202-1204 - Gene Patents in Canada: Is There a New Legal Landscape?
Bonter Katherine L et al. Molecular diagnosis & therapy 2017 Dec
General Practice
- Precision medicine steps out of the lab and into the EHR
G Venditoo, Healthcare IT News, Dec 14, 2017 - Genetics May Play Role in Chronic Pain After Surgery
American Society of Anesthesiologists, Dec 14, 2017 - Genetic study defies 'one-size-fits-all' approach to prescribing opioids for chronic pain
Medical Xpress, Dec 13, 2017 - DNA Testing Kits Are on Everyone's Holiday List. 5 Things to Know If You Get One
A Park, Time, Dec 18, 2017 - All of Us Research Program Seeks Input on Research Priorities
NIH, Dec 19, 2017 - Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Adam Shelin et al. Journal of clinical epidemiology 2017 Dec 927-10 - Finland establishing the internet of genomics and health data.
Palotie Aarno et al. Duodecim; laaketieteellinen aikakauskirja 133(8) 771-5 - Genes in the Basement, Postmortem Genetic Testing…and 3 (New) Realities.
Seidman Michael A et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Opportunities for training for nutritional professionals in nutritional genomics: What is out there?
Collins Jorja et al. Nutrition & dietetics: the journal of the Dietitians Association of Australia 2017 Dec - How practical experiences, educational routes and multidisciplinary teams influence genetic counsellors' clinical practice in Europe.
Pestoff Rebecka et al. Clinical genetics 2017 Dec - What to Know Before Buying a Home DNA Test
American Cancer Society, Dec 14, 2017 - Maximizing the benefits of precision health care
Genome BC< Dec 18, 2017 - Unlocking Life's Code Free Monthly eNewsletter
- What will the Doctor order?
M Hogenboom, BBC, Dec 2017 - From public health genomics to precision public health: a 20-year journey.
Khoury Muin J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Chisholm Caitlin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Comparison of Telephone and Televideo Modes for Delivery of Genetic Counseling: a Randomized Trial.
Voils Corrine I et al. Journal of genetic counseling 2017 Dec - What is gene therapy? How does it work?
FDA< December, 2017 - Human genetics and the weight of expectations
M Wanner, Jackson Lab, Dec 2017.
Heart, Lung, Blood and Sleep Diseases
- Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study.
Kinnamon Daniel D et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Genetic variations of cholesteryl ester transfer protein and diet interactions in relation to lipid profiles and coronary heart disease: a systematic review.
Mirmiran Parvin et al. Nutrition & metabolism 2017 1477 - Assessment of multifactorial coronary artery disease by utilizing genomic data.
Widén Elisabeth et al. Duodecim; laaketieteellinen aikakauskirja 133(8) 776-81 - Lamin A/C Cardiomyopathy: Cutting Edge to Personalized Medicine.
Sinagra Gianfranco et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
Baudhuin Linnea M et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Ying et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Optimizing the care model for an uncomplicated acute pain episode in sickle cell disease.
Telfer Paul et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 525-533 - Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death
R Tadros et al, JACC CLin Electrophysiology, Dec 2017 - Role of titin in cardiomyopathy: from DNA variants to patient stratification.
Ware James S et al. Nature reviews. Cardiology 2017 Dec - Effect of cytochrome P450 2C19 polymorphism on adverse cardiovascular events after drug-eluting stent implantation in a large Hakka population with acute coronary syndrome receiving clopidogrel in southern China.
Zhong Zhixiong et al. European journal of clinical pharmacology 2017 Dec - Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.
Bland Austin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - [Evaluation of knowledge and practices regarding heterozygous familial hypercholesterolemia in children].
Jeangeorges A et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 Dec - Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.
Reuter Chloe et al. Journal of genetic counseling 2017 Dec - Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies.
Wynn Julia et al. Journal of genetic counseling 2017 Dec - An educational booklet for patients with familial hypercholesterolemia
Heart UK, 2017
Newborn Screening
- Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists.
Iskrov Georgi et al. Frontiers in public health 2017 5308 - Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array.
He Xuehu et al. American journal of audiology 2017 Dec 1-10 - Newborn screening of congenital adrenal hyperplasia.
Dulín Iñiguez Elena et al. Endocrinologia, diabetes y nutricion 2017 Dec - Newborn screening in the United States may miss mild persistent hypothyroidism.
Maahs David M et al. The Journal of pediatrics 2018 Jan 1921-2 - Newborn Screening in the US May Miss Mild Persistent Hypothyroidism.
Kilberg Marissa J et al. The Journal of pediatrics 2018 Jan 192204-208 - A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Boemer F et al. Scientific reports 2017 Dec 7(1) 17641
Pharmacogenomics
- Pharmacogenomics of GPCR Drug Targets.
Hauser Alexander S et al. Cell 2017 Dec - Does Computer Simulation Help Facilitate Personalized Precision Medicine for the Use of Warfarin?
Goto Shinichi et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Personalized Anticoagulation: Optimizing Warfarin Management Using Genetics and Simulated Clinical Trials.
Ravvaz Kourosh et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Pharmacogenomics: Time to re-think its role in Precision Medicine.
Willis Jason A et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Dec - CYP2D6 drug-gene and drug-drug-gene interactions among patients prescribed pharmacogenetically actionable opioids.
Knisely Mitchell R et al. Applied nursing research : ANR 2017 Dec 38107-110 - Evaluation of pharmacy students' knowledge and perceptions of pharmacogenetics before and after a simulation activity.
Patel Radha V et al. Currents in pharmacy teaching & learning 10(1) 96-101 - Pharmacogenetics of Methadone Response.
Fonseca Francina et al. Molecular diagnosis & therapy 2017 Nov - Genome-wide and Phenome-wide Approaches to Understand Variable Drug Actions in Electronic Health Records.
Robinson Jamie R et al. Clinical and translational science 2017 Nov
Reproductive Health
- [Overview of feelings and practices of gynecologists and obstetricians for the noninvasive prenatal testing in France].
Bardy-Evrard C et al. Gynecologie, obstetrique, fertilite & senologie 2017 Dec - Abnormally fertilized oocytes can result in healthy live births: improved genetic technologies for preimplantation genetic testing can be used to rescue viable embryos in in vitro fertilization cycles.
Capalbo Antonio et al. Fertility and sterility 2017 Dec 108(6) 1007-1015.e3 - Prenatal diagnosis of Down syndrome: A 13-year retrospective study.
Vicic Ana et al. Taiwanese journal of obstetrics & gynecology 2017 Dec 56(6) 731-735 - Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.
Kraft Stephanie A et al. American journal of medical genetics. Part A 2017 Dec - Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer.
Gietel-Habets J J G et al. Reproductive biomedicine online 2017 Dec - A systematic analysis of online marketing materials used by providers of expanded carrier screening.
Chokoshvili Davit et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec - Challenges, Dilemmas and Factors Involved in PGD Decision-Making: Providers' and Patients' Views, Experiences and Decisions.
Klitzman Robert et al. Journal of genetic counseling 2017 Dec - Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options.
Gammon Betsy L et al. Journal of genetic counseling 2017 Dec - Genetic counselling, patient education, and informed decision-making in the genomic era.
Metcalfe Sylvia A et al. Seminars in fetal & neonatal medicine 2017 Dec
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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