Publication Date: May 11, 2017
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Gene Therapy for β-Hemoglobinopathies.
Cavazzana Marina et al. Molecular therapy : the journal of the American Society of Gene Therapy 2017 May 25(5) 1142-1154 - Can we make gene therapy work?
N Rahman, TGMI Blog Post, April 2017 - Living with Thalassemia
- State-of-the-art testing for alpha-1 antitrypsin deficiency.
Kueppers Friedrich et al. Allergy and asthma proceedings 2017 Mar 38(2) 108-114 - Key Pharmacogenomic Considerations for Sickle Cell Disease Patients.
Kolliopoulou Alexandra et al. Omics : a journal of integrative biology 2017 May - Investigation of the utility of various diagnostic guidelines for Wilson's disease.
Nakai Masato et al. Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology 2017 114(5) 839-845 - Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry Andrew E et al. BMC medical genetics 2016 Apr 17(1) 34 - Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.
Oikonomakis V et al. Clinical genetics 2016 Jun 89(6) 708-18 - Refining the continuum of CFTR-associated disorders in the era of newborn screening.
Levy H et al. Clinical genetics 2016 May 89(5) 539-49 - Diagnosis of cystic fibrosis with chloride meter (Sherwood M926S chloride analyzer®) and sweat test analysis system (CFΔ collection system®) compared to the Gibson Cooke method.
Emiralioglu Nagehan et al. The Turkish journal of pediatrics 2016 58(1) 27-33 - Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68 - International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705 - Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic Approaches.
Santangelo Simona et al. Current medicinal chemistry 2017 24(1) 65-90 - A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.
Kubendran Shobana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - First clear-cut risk genes for Tourette disorder revealed
Science Daily, May 3, 2017 - A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Tsiplova Kate et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period.
Lambe J et al. Irish journal of medical science 2017 May - Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh Arunabha et al. Archives of disease in childhood 2017 May - Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83 - The Complex Genetic Basis of Congenital Heart Defects.
Akhirome Ehiole et al. Circulation journal : official journal of the Japanese Circulation Society 2017 Apr 81(5) 629-634 - Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
Algiraigri Ali H et al. Hematology/oncology and stem cell therapy 2017 Apr - Genetics and Genomics of Congenital Heart Disease.
Zaidi Samir et al. Circulation research 2017 Mar 120(6) 923-940 - Life with a Rare Genetic Disease: The Science, the Suffering and the Hope
M Angrist, New York Times, April 28, 2017
Cancer
- Lost in translation: returning germline genetic results in genome-scale cancer research
AL Johns et al, Genome Medicine, April 2017 - Identification, genetic testing, and management of hereditary melanoma.
Leachman Sancy A et al. Cancer metastasis reviews 2017 Mar 36(1) 77-90 - Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age.
Seo Joann et al. Journal of genetic counseling 2017 Jun 26(3) 511-521 - Gene Expression Signatures for Head and Neck Cancer Patient Stratification: Are Results Ready for Clinical Application?
Tonella Luca et al. Current treatment options in oncology 2017 May 18(5) 32 - Thousands of men with prostate cancer get risky treatment they don’t need. New approaches could curb that
S Begley, StatNews, May 4, 2017 - Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families
E Healey et al, Genetics in Medicine, May 11, 2017 - Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.
Huo Dezheng et al. JAMA oncology 2017 May - Genetics and Genomics in Oncology Nursing: What Does Every Nurse Need to Know?
Eggert Julie et al. The Nursing clinics of North America 2017 Mar 52(1) 1-25 - Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations.
Al-Mahayri Zeina N et al. Pharmacogenomics 2017 May - Prognostic impact of EGFR mutation in non-small-cell lung cancer patients with family history of lung cancer.
Kim Jung Soo et al. PloS one 2017 12(5) e0177015 - Towards decision-making using individualized risk estimates for personalized medicine: A systematic review of genomic classifiers of solid tumors.
Trifiletti Daniel M et al. PloS one 2017 12(5) e0176388 - "I Don't Want to Be an Ostrich": Managing Mothers' Uncertainty during BRCA1/2 Genetic Counseling.
Fisher Carla L et al. Journal of genetic counseling 2017 Jun 26(3) 455-468 - Genomic Profiling of Advanced Non-Small Cell Lung Cancer in Community Settings: Gaps and Opportunities.
Gutierrez Martin E et al. Clinical lung cancer 2017 Apr - Clinical genomic profiling to identify actionable alterations for investigational therapies in patients with diverse sarcomas.
Groisberg Roman et al. Oncotarget 2017 Apr - Women with Family History of Breast Cancer: How Much Are They Aware of Their Risk?
Seven Memnun et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2017 May - Early Adoption of a Multitarget Stool DNA Test for Colorectal Cancer Screening.
Finney Rutten Lila J et al. Mayo Clinic proceedings 2017 May 92(5) 726-733 - Young Women's Perceptions Regarding Communication with Healthcare Providers About Breast Cancer, Risk, and Prevention.
Buchanan Lunsford Natasha et al. Journal of women's health (2002) 2017 May - Androgen receptor gene status in plasma DNA associates with worse outcome on enzalutamide or abiraterone for castration-resistant prostate cancer: a multi-institution correlative biomarker study.
Conteduca V et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 May - Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.
Carnevali Ileana et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 May - A Dedicated Follow-Up Clinic for BRCA Mutation Carriers.
Yerushalmi Rinat et al. The Israel Medical Association journal : IMAJ 2016 Sep 18(9) 549-552 - Systemic Treatment Strategies for Patients with Hereditary Breast Cancer Syndromes.
Parkes Amanda et al. The oncologist 2017 May - Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome.
West Kathleen M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers.
O'Kane Grainne M et al. Cancer medicine 2017 May - Tracking unstable chromosomes helps predict lung cancer’s return
Science Magazine, April 26, 2017 - Precision medicine: the foundation of future cancer therapeutics
SH Shin et al, NPJ Precision Oncology, April 2017 - Liquid-biopsies success highlights power of combining basic and clinical research
Nature editorial, April 26, 2017 - Can Men Get Breast Cancer? Yes, they can. Here's what to know.
J Abraham, US News, April 27, 2017
Chronic Diseases
- The Confluence of Psychiatric Symptoms and Neurodegenerative Disease: Impact on Genetic Counseling.
Goldman Jill S et al. Journal of genetic counseling 2017 Jun 26(3) 435-441 - Proof of concept: Molecular prediction of schizophrenia risk
AR Docherty et al, May 2017, BioXRIV - Genome-wide physical activity interactions in adiposity ¯ A meta-analysis of 200,452 adults
M Graf et al, PLOS Genetics, April 2017 - The Paternal Epigenome Makes Its Mark
J Abbasi, JAMA, May 3, 2017 - Precision Genetic and Genomic Medicine in the Middle East and North Africa Region: Are We There Yet?
Bilani Nadeem et al. Public health genomics 2017 May - Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580 - The Stratification Of Major Depressive Disorder Into Genetic Subgroups
DM Howard et al, BioXRIV, May 2017 - Genetic Signatures of Asthma Exacerbation.
Park Heung Woo et al. Allergy, asthma & immunology research 2017 May 9(3) 191-199 - Translating GWAS Findings Into Therapies For Depression And Anxiety Disorders: Drug Repositioning Using Gene-Set Analyses And Testing For Enrichment Of Psychiatric Drug Classes
HC So, BioXRIV, May 2017 - Gene mutation may speed up memory loss in Alzheimer’s disease
Science Magazine, May 3, 2017 - Rethinking the Epigenetic Framework to Unravel the Molecular Pathology of Schizophrenia.
Cariaga-Martinez Ariel et al. International journal of molecular sciences 2017 18(4)
Ethics, Policy and Law
- Genomic futures of prenatal screening: ethical reflection.
Dondorp W J et al. Clinical genetics 2016 May 89(5) 531-8
Genomics in Practice
- Crave Sugar? Maybe It's in Your Genes
Scientific American, May 2, 2017 - Genomic Sequencing for the Healthy Individual?: Think Smaller
JAMA Podcast, May 9, 2017 - JAMA Insights: Genomics and Precision Health
- Genetic Epidemiology And Mendelian Randomization For Informing Disease Therapeutics: Conceptual And Methodological Challenges
L Paternoster et al, BioRxIV, May 2017 - Waste, Leaks, and Failures in the Biomarker Pipeline
JP Ioannidis et al, Clin Chem, April 2017 - Dear Jeanie: Whole Genome Sequencing
NSGC Blog post, April 2017 - Omics in Nursing Science
Special issue of Nursing Research, May 2017 - Genetic and Genomic Competencies for Nursing Informatics Internationally.
Mc Cormick Kathleen A et al. Studies in health technology and informatics 2017 232152-164 - Open sharing of genomic data: Who does it and why?
Haeusermann Tobias et al. PloS one 2017 12(5) e0177158 - Diet and exercise changes following direct-to-consumer personal genomic testing.
Nielsen Daiva Elena et al. BMC medical genomics 2017 May 10(1) 24 - Assessment of knowledge about biobanking among healthcare students and their willingness to donate biospecimens.
Merdad Leena et al. BMC medical ethics 2017 May 18(1) 32 - InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
Li Quan et al. American journal of human genetics 2017 Feb 100(2) 267-280 - Beyond Genes and Molecules — A Precision Delivery Initiative for Precision Medicine
RB Parikh et al, NEJM, April 26, 2017 - Preparing Nurses for Genetic Medicine: Integration of a Brief Education Session in an Undergraduate Nursing Curriculum.
St-Martin Genevieve et al. The Journal of nursing education 2017 Mar 56(3) 170-173 - Introduction: Forecasting Informatics Competencies for Nurses in the Future of Connected Health.
Murphy Judy et al. Studies in health technology and informatics 2017 2321-6 - These DNA Diet Apps Want to Rule Your Health
A Ossola, Back Channel, May 1, 2017 - Possible barriers for genetic counselors returning actionable genetic research results across state lines
MC Roberts et al, Genetics in Medicine, April 2017 - Beyond Genes and Molecules — A Precision Delivery Initiative for Precision Medicine
RB Parikh et al, NEJM, April 27, 2017 - Transcriptomics and the Mediterranean Diet: A Systematic Review.
Herrera-Marcos Luis V et al. Nutrients 2017 May 9(5) - Introducing “Genomics and Precision Health”
WG Feero, JAMA, May 9, 2017 - 3-Dimensional Facial Analysis—Facing Precision Public Health
G Baynam et al, Front Public Health, April 2017 - Precision Medicine Screening Using Whole Genome Sequencing And Advanced Imaging To Identify Disease Risk In Adults
BA Perkins et al, BioXRIV, May 2017 - Direct-to-consumer genetic tests are a ‘turning point’ for precision medicine, analysts say
E Sweeney, Fierce Healthcare, May 1, 2017 - Diet and exercise changes following direct-to-consumer personal genomic testing
DE Nielsen et al, BMC Medical Genomics, May 2, 2017 - Uninformed consent in nutrigenomic research
AC Janssens et al, Eur J Human Genetics, May 10, 2017 - Personalized medicine in Europe: not yet personal enough?
A Di Paolo et al, BMC Health Services Research, April 2017
Cardiovascular Diseases
- Genetic Risk Prediction of Atrial Fibrillation.
Lubitz Steven A et al. Circulation 2017 Apr 135(14) 1311-1320 - Circulating MicroRNAs as Potential Biomarkers of Atrial Fibrillation.
da Silva Ananília Medeiros Gomes et al. BioMed research international 2017 20177804763 - Can we afford not to screen for FH?
RM Stoekenbroek et al, Europ Heart Journal, April 2017 - [Practical guidelines for genetic testing in cardiovascular diseases].
Reinhard W et al. Herz 2017 May - 20th Workshop of the International Stroke Genetics Consortium, November 3-4, 2016, Milan, Italy: 2016.036 ISGC research priorities.
Woo Daniel et al. Neurology. Genetics 2017 Mar 3(1 Suppl 1) S12-S18 - Relevance of molecular testing in patients with a family history of sudden death.
Kauferstein Silke et al. Forensic science international 2017 Apr 27618-23 - Nine paths to PCSK9 inhibition
A Mullard, Nature Rev Drug Discovery, April 2017 - Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy
C Burns et al, Eur J Human Genetics, May 3, 2017 - Update about atrial fibrillation genetics.
Pérez-Serra Alexandra et al. Current opinion in cardiology 2017 Feb
Newborn Screening
- Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot.
Moody Louise et al. BMC pediatrics 2017 May 17(1) 121 - Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment.
Ke Qing et al. World journal of pediatrics : WJP 2017 May - Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
Currier Robert J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
Reproductive Health
- Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion.
Pereza Nina et al. Fertility and sterility 2017 Jan 107(1) 150-159.e2 - First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification.
Zimowski J G et al. Clinical genetics 2016 May 89(5) 620-4 - What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?
van Schendel Rachèl V et al. Journal of genetic counseling 2017 Jun 26(3) 522-531 - Genetics of recurrent miscarriage and fetal loss.
Tur-Torres M H et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Mar - The attitudes of Dutch fertility specialists towards the addition of genetic testing in screening of tubal factor infertility.
Malogajski Jelena et al. Sexual & reproductive healthcare : official journal of the Swedish Association of Midwives 2017 Jun 12123-127 - Recent insights on the genetics and epigenetics of endometriosis.
Borghese B et al. Clinical genetics 2017 Feb 91(2) 254-264 - DNA methylation in endometriosis (Review).
Koukoura Ourania et al. Molecular medicine reports 2016 Apr 13(4) 2939-48 - Applying Precision Public Health to Prevent Preterm Birth.
Newnham John P et al. Frontiers in public health 2017 566
Pharmacogenomics
- Mutation discovered that, linked with drug, predisposes osteoporosis patients to femur fracture
Science Magazine, May 4, 2017 - Preemptive Panel-Based Pharmacogenetic Testing: The Time is Now.
Weitzel Kristin W et al. Pharmaceutical research 2017 May - Pharmacogenetics of drug-drug interaction and drug-drug-gene interaction: a systematic review on CYP2C9, CYP2C19 and CYP2D6.
Bahar Muh Akbar et al. Pharmacogenomics 2017 May - Pharmacogenomics and Efficacy of Risperidone Long-Term Treatment in Thai Autistic Children and Adolescents.
Nuntamool Nopphadol et al. Basic & clinical pharmacology & toxicology 2017 May
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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