Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Apr 19, 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

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Rare Genetic Diseases- Ending diagnostic odysseys for patients with rare diseases  
  NHGRI, Apr 2018
• Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.  
  Lindy Amanda S et al. Epilepsia 2018 Apr
• Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder.  
  Yuen Tracy et al. Applied health economics and health policy 2018 Apr
• Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.  
  Farnaes Lauge et al. NPJ genomic medicine 2018 310
• Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.  
  Huang Hui et al. PloS one 2018 13(4) e0185237
• [Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].  
  Elbracht Miriam et al. Klinische Padiatrie 2018 Apr
• Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.  
  Pahl Kristy S et al. The Journal of pediatrics 2018 Apr

Cancer

• The burden of lung cancer in Latin-America and challenges in the access to genomic profiling, immunotherapy and targeted treatments.  
  Raez Luis E et al. Lung cancer (Amsterdam, Netherlands) 2018 May 1197-13
• GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis.  
  Tefferi Ayalew et al. Leukemia 2018 Mar
• Immune Profiling of Premalignant Lesions in Patients With Lynch Syndrome  
  K Chang et al, JAMA Onc, Apr 16, 2018
• A precision medicine approach in sarcoma: identification of patients who may benefit from early use of pazopanib.  
  Alavi Sayad Navid et al. Discovery medicine 2018 Mar 25(137) 131-144
• Identification of hypoxic gene-signature as a prognostic and predictive biomarker to determine effective therapy in high risk bladder cancer patients. 
  Tan Zheng et al. Translational andrology and urology 2018 Mar 7(Suppl 1) S104-S106
• Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer.  
  Uyar Denise et al. Gynecologic oncology 2018 Apr
• The Pink Underside: The Commercialization of Medical Risk Assessment and Decision-Making Tools for Hereditary Breast Cancer Risk.  
  Hesse-Biber Sharlene et al. Qualitative health research 2018 Apr 1049732318767395
• Understanding of multigene test results among males undergoing germline testing for inherited prostate cancer: Implications for genetic counseling. 
  Giri Veda N et al. The Prostate 2018 Apr
• Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study.  
  Katapodi Maria C et al. JMIR cancer 2018 Apr 4(1) e7
• Immunohistochemistry for mismatch repair protein deficiency in endometrioid endometrial carcinoma yields equivalent results when performed on endometrial biopsy/curettage or hysterectomy specimens.  
  Chapel David B et al. Gynecologic oncology 2018 Apr
• Clinical Next-Generation Sequencing for Precision Oncology in Rare Cancers.  
  Groisberg Roman et al. Molecular cancer therapeutics 2018 Apr
• Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.  
  Naito Yoichi et al. Japanese journal of clinical oncology 2018 Apr
• Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.  
  Hellmann Matthew D et al. Cancer cell 2018 Apr
• Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes.  
  Petersen Helle Vendel et al. Familial cancer 2018 Apr
• Costs and outcomes of Lynch syndrome screening in the Australian colorectal cancer population.  
  Cenin Dayna R et al. Journal of gastroenterology and hepatology 2018 Apr
• Maternal perceptions of BRCA genetic counseling communication processes about disclosing cancer risk information to children and adult relatives. 
  Hamilton Jada G et al. Psycho-oncology 2018 Apr
• Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.  
  Soukupova Jana et al. PloS one 2018 13(4) e0195761
• Pre-clinical validation of a next generation sequencing testing panel.  
  Lüsebrink Jessica et al. Experimental and molecular pathology 2018 Apr 104(3) 170-174
• [Molecular Targeted Therapies for Hereditary Cancer Syndrome].  
  Shimodaira Hideki et al. Gan to kagaku ryoho. Cancer & chemotherapy 2018 Apr 45(4) 587-592
• Racial Disparities in the Molecular Landscape of Cancer.  
  Heath Elisabeth I et al. Anticancer research 2018 38(4) 2235-2240
• Diagnostic utility of DREAM gene mRNA levels in thyroid tumours.  
  Batista Fernando A et al. Archives of endocrinology and metabolism 2018 Apr
• Should decisions on adding adjuvant chemotherapy in early stage ER positive breast cancer be based on gene expression testing or clinicopathologic factors or both?  
  Geffen D B et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Apr
• Catalyzing the field of precision oncology, one basket at a time.  
  Pao William et al. Nature medicine 2018 Apr 24(4) 387-388
• Relevance of a molecular tumour board (MTB) for patients' enrolment in clinical trials: experience of the Institut Curie.  
  Basse Clémence et al. ESMO open 2018 3(3) e000339
• Practice patterns and outcomes for patients with node-negative hormone receptor-positive breast cancer and intermediate 21-gene Recurrence Scores.  
  Chen Jonathan et al. Breast cancer research : BCR 2018 Apr 20(1) 26
• [<p>Lynch syndrome is a major cause of monogenetic familial colorectal cancer</p>].  
  Walton Bernstedt Sophie et al. Lakartidningen 2018 Apr 115
• Cost-Effectiveness Analyses of the 21-Gene Assay in Breast Cancer: Systematic Review and Critical Appraisal.  
  Wang Shi-Yi et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Apr JCO2017765941
• Genetic unrelatedness of co-occurring pancreatic adenocarcinomas and IPMNs challenges current views of clinical management.  
  Scarpa Aldo et al. Gut 2018 Apr
• Clinical impact of endometrial cancer stratified by genetic mutational profiles, POLE mutation, and microsatellite instability.  
  Haruma Tomoko et al. PloS one 2018 13(4) e0195655
• Cancer patients are increasingly being treated based on their inherited genetics — and it’s putting doctors in a difficult position  
  L Ramsey, Business Insider, Apr 14, 2018
• Estimation of The Percentage of US Patients With Cancer Who Benefit From Genome-Driven Oncology  
  J Marquart et al, JAMA Oncology, Apr 17, 2018
• NIH study revises molecular classification for most common type of lymphoma  
  NIH News, Apr 11, 2018
• Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy.  
  Spencer David H et al. JAMA 2018 Apr 319(14) 1497-1498
• New additions to the cancer precision medicine toolkit.  
  Mardis Elaine R et al. Genome medicine 2018 Apr 10(1) 28
• Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.  
  Wedge David C et al. Nature genetics 2018 Apr
• Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.  
  Taylor Amy et al. Journal of medical genetics 2018 Apr
• Prognostic Impact of Tumor Mutation Burden in Patients with Completely Resected Non-Small Cell Lung Cancer: Brief Report.  
  Owada-Ozaki Yuki et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Apr
• Colorectal Liver Metastases: Does the Future of Precision Medicine Lie in Genetic Testing?  
  Barbon Carlotta et al. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2018 Apr

Chronic Disease

• Knowledge and Awareness of Glaucoma in Subjects with Glaucoma and their Normal First-Degree Relatives.  
  Celebi Ali Riza Cenk et al. Medical hypothesis, discovery & innovation ophthalmology journal 2018 7(1) 40-47
• A fast and cost-effective method for apolipoprotein E isotyping as an alternative to APOE genotyping for patient screening and stratification.  
  Calero Olga et al. Scientific reports 2018 Apr 8(1) 5969
• Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.  
  Lepori Nicola et al. Clinical kidney journal 2018 Apr 11(2) 179-190
• Take Care of Your Kidneys and They Will Take Care of You 
• DNA methylation-based biomarkers and the epigenetic clock theory of ageing.  
  Horvath Steve et al. Nature reviews. Genetics 2018 Apr

Ethical, Legal and Social Issues (ELSI)

• Accurate Filtering of Privacy-Sensitive Information in Raw Genomic Data.  
  Decouchant Jérémie et al. Journal of biomedical informatics 2018 Apr
• FDA finalizes guidances to accelerate the development of reliable, beneficial next generation sequencing-based tests,  
  FDA, April 12, 2018

General Practice

• Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS) – Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases  
  FDA, April 13, 2018
• Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics  
  FDA, April 13, 2018
• Are we ready for routine precision medicine? Highlights from the Milan Summit on Precision Medicine, Milan, Italy, 8-9 February 2018.  
  Mazzarella Luca et al. Ecancermedicalscience 2018 12817
• Value-based genomics.  
  Gong Jun et al. Oncotarget 2018 Mar 9(21) 15792-15815
• Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview.  
  Guasch-Ferré Marta et al. Advances in nutrition (Bethesda, Md.) 2018 Mar 9(2) 128-135
• Genetics of personalized medicine: cancer and rare diseases.  
  Alves Inês Teles Siefers et al. Cellular oncology (Dordrecht) 2018 Apr
• Your Genome and Epigenome at Work  
  https://www.genome.gov/27570935/
• Tracking the Translation of Genomic Discoveries to Population Health Benefits: Connecting the Dots from Investment to Population Health Information
  Yu W et al, CDC Blog Post, Apr 2018
• A Systematic Review of Genetic Testing and Lifestyle Behaviour Change: Are We Using High-Quality Genetic Interventions and Considering Behaviour Change Theory?  
  Horne Justine et al. Lifestyle genomics 2018 Apr
• Public attitudes in Japan toward participation in whole genome sequencing studies.  
  Okita Taketoshi et al. Human genomics 2018 Apr 12(1) 21
• Trends and Gaps in Awareness of Direct-to-Consumer Genetic Tests From 2007 to 2014.  
  Apathy Nate C et al. American journal of preventive medicine 2018 Apr
• Enhancing health literacy through co-design: development of culturally appropriate materials on genetic risk and customary consanguineous marriage.  
  Ali Parveen Azam et al. Primary health care research & development 2018 Apr 1-13
• The next generation of precision medicine: observational studies, electronic health records, biobanks, and continuous monitoring.  
  Glicksberg Benjamin S et al. Human molecular genetics 2018 Apr
• DNA sequencing program saving patient lives  
  HealthCare IT News, Apr 2018
• Development and application of CRISPR/Cas9 technologies in genomic editing.  
  Cui Zhang et al. Human molecular genetics 2018 Apr
• A Comprehensive Program Enabling Effective Delivery of Regional Genetic Counseling.  
  Brown Jubilee et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2018 Apr
• Gene Editing for Good: How CRISPR Could Transform Global Development  
  B Gates, Foreign Affairs, Apr 10, 2018
• Employees Jump at Genetic Testing. Is That a Good Thing?  
  N Singer, NY Times, Apr 2018
• Understanding Disparities in Access to Genomic Medicine: A Workshop  
  NASEM, June 27, 2018 workshop announcement
• Genomic sequencing identifies secondary findings in a cohort of parent study participants  
  ML Thompson et al, Genetics in Medicine, Apr 11, 2018
• Genetic Testing in Clinical Settings.  
  Franceschini Nora et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 Apr

Heart, Lung, Blood and Sleep Diseases

• Precision medicine and personalising therapy in pulmonary hypertension: seeing the light from the dawn of a new era.  
  Savale Laurent et al. European respiratory review : an official journal of the European Respiratory Society 2018 Jun 27(148)
• The Pharmacologic Role and Clinical Utility of PCSK9 Inhibitors for the Treatment of Hypercholesterolemia.  
  White C Michael et al. Journal of cardiovascular pharmacology and therapeutics 2018 Jan 1074248418769040
• Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.  
  Viswanathan Shiv Kumar et al. JAMA cardiology 2018 Apr
• Cardiovascular Genetic Risk Testing for Targeting Statin Therapy in the Primary Prevention of Atherosclerotic Cardiovascular Disease: A Cost-Effectiveness Analysis.  
  Jarmul Jamie et al. Circulation. Cardiovascular quality and outcomes 2018 Apr 11(4) e004171
• Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.  
  van Velzen Hannah G et al. Circulation. Genomic and precision medicine 2018 Apr 11(4) e001896
• Family Matters: Outcomes of Hypertrophic Cardiomyopathy Family Screening.  
  Ingles Jodie et al. Circulation. Genomic and precision medicine 2018 Apr 11(4) e002112
• Hypertrophic Cardiomyopathy: Clinical Update.  
  Geske Jeffrey B et al. JACC. Heart failure 2018 Apr
• Clinical implementation of rapid CYP2C19 genotyping to guide antiplatelet therapy after percutaneous coronary intervention.  
  Cavallari Larisa H et al. Journal of translational medicine 2018 Apr 16(1) 92

Newborn Screening

• The decision to discontinue screening for carnitine uptake disorder in New Zealand.  
  Wilson Callum et al. Journal of inherited metabolic disease 2018 Apr
• Newborn screening, a disease-changing intervention for glutaric aciduria type 1.  
  Boy Nikolas et al. Annals of neurology 2018 Apr
• Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.  
  Hao Zongjie et al. PloS one 2018 13(4) e0195740

Pharmacogenomics

• Confronting the Opioid Epidemic 
• Significance of Pharmacogenomics in Precision Medicine.  
  Cascorbi Ingolf et al. Clinical pharmacology and therapeutics 2018 May 103(5) 732-735
• A Discrete Event Simulation Model to Assess the Economic Value of a Hypothetical Pharmacogenomics Test for Statin-Induced Myopathy in Patients Initiating a Statin in Secondary Cardiovascular Prevention.  
  Mitchell Dominic et al. Molecular diagnosis & therapy 2018 Apr
• Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC).  
  Bergmeijer Thomas O et al. American heart journal 2018 Apr 198152-159
• Pharmacogenomics and big genomic data: from lab to clinic and back again.  
  Lavertu Adam et al. Human molecular genetics 2018 Apr
• Pharmacogenetics of platinum-based chemotherapy: impact of DNA repair and folate metabolism gene polymorphisms on prognosis of non-small cell lung cancer patients.  
  Pérez-Ramírez Cristina et al. The pharmacogenomics journal 2018 Apr
• Pharmacogenetics of Opioid Use Disorder Treatment.  
  Crist Richard C et al. CNS drugs 2018 Apr
• Pharmacogenomics- Choosing the right medication at the right dose for each patient  
  NHGRI, Apr 2018
• Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.  
  Ji Yuan et al. Expert review of molecular diagnostics 2018 Apr

Reproductive Health

• Noninvasive Prenatal Genetic Testing - Revolutionizing health assessments before birth  
  NHGRI, Apr, 2018
• Women's perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions.  
  Vanstone Meredith et al. BMC medical ethics 2018 Apr 19(1) 27
• Support needs of couples with hereditary breast and ovarian cancer during reproductive decision-making.  
  Gietel-Habets J J G et al. Psycho-oncology 2018 Apr
• Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.  
  Gu Xiaoyan et al. Medicine 2018 Apr 97(15) e0112
• Next generation sequencing for preimplantation genetic testing for aneuploidy: friend or foe?  
  Fragouli Elpida et al. Fertility and sterility 2018 Apr 109(4) 606-607

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.