Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Mar 15, 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

• Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.  
  Basha Mirta et al. Journal of medical genetics 2018 Mar
• Hereditary Angioedema: The Economics of Treatment of an Orphan Disease.  
  Lumry William Raymond et al. Frontiers in medicine 2018 522
• Precision medicine in hearing loss.  
  Rudman Jason R et al. Journal of genetics and genomics = Yi chuan xue bao 2018 Feb
• Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.  
  et al. Indian pediatrics 2018 Feb 55(2) 143-153
• Fast genome tests are diagnosing some of the sickest babies in time to save them,  
  by Emily Mullin, Technology Reviews, March 8, 2018
• Recognizing the Global Impact of Zika Virus Infection during Pregnancy.  
  Honein Margaret A et al. The New England journal of medicine 2018 Mar 378(11) 1055-1056
• Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.  
  Bailey Julia N et al. The New England journal of medicine 2018 Mar 378(11) 1018-1028
• From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics.  
  Howell R Rodney et al. Annual review of genomics and human genetics 2018 Mar
• Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.  
  Papadopoulou Anna et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Feb
• Clinical utility gene card: for pseudoxanthoma elasticum.  
  Legrand Anne et al. European journal of human genetics : EJHG 2018 Feb
• ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.  
  Moitra Karobi et al. International journal of molecular sciences 2017 Jul 18(7)
• Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia.  
  Atehortúa Sara C et al. Value in health regional issues 2018 Mar 171-6
• Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.  
  Kobayashi Michio et al. Internal medicine (Tokyo, Japan) 2018 Mar
• Genome Editing Gets Thumbs Up from UK Citizens  
  Frontline Genomics, Mar 13, 2018
• Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.  
  Swaminathan Rajeswari et al. Frontiers in genetics 2018 954
• Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.  
  Eisengart Julie B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Fabry disease revisited: Management and treatment recommendations for adult patients.  
  Ortiz Alberto et al. Molecular genetics and metabolism 2018 Feb
• Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.  
  Boyer M et al. Molecular genetics and metabolism 2018 Feb
• Molecular genetic testing for hereditary ataxia: What every neurologist should know.  
  Wallace Stephanie E et al. Neurology. Clinical practice 2018 Feb 8(1) 27-32
• Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil.  
  Gibbon Sahra et al. Anthropology & medicine 2018 Apr 25(1) 11-29
• Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing.  
  Mahajan Rahul et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2018 Mar
• Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.  
  Nascimento Osorio A et al. Neurologia (Barcelona, Spain) 2018 Mar

Cancer

• Impact of preoperative BRCA1/2 testing on surgical decision making in patients with newly diagnosed breast cancer.  
  Yadav Siddhartha et al. The breast journal 2018 Mar
• Psychological impact of multi-gene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain.  
  Esteban I et al. Psycho-oncology 2018 Mar
• Spotlight on the utility of the Oncotype DX ® breast cancer assay.  
  Siow Zhen Rong et al. International journal of women's health 2018 1089-100
• K-ras mutation analysis of residual liquid-based cytology specimens from endoscopic ultrasound-guided fine needle aspiration improves cell block diagnosis of pancreatic ductal adenocarcinoma.  
  Sekita-Hatakeyama Yoko et al. PloS one 2018 13(3) e0193692
• Disentangling the determinants of interest and willingness-to-pay for breast cancer susceptibility testing in the general population: a cross-sectional Web-based survey among women of Québec (Canada).  
  Blouin-Bougie Jolyane et al. BMJ open 2018 8(2) e016662
• Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.  
  Bradbury Angela R et al. Journal of the National Cancer Institute 2018 Feb
• Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.  
  Barrington David A et al. Gynecologic oncology 2018 Feb
• Is there a "right time" for bad news? Kairos in familial communication on hereditary breast and ovarian cancer risk.  
  Derbez Benjamin et al. Social science & medicine (1982) 2018 Feb 20213-19
• Comprehensive clinical genetics care for patients with inherited colorectal cancer associated with Lynch syndrome: Western and Asian perspectives. 
  Yang Yun et al. Chinese clinical oncology 2018 Feb 7(1) 9
• Population Screening for Hereditary Colorectal Cancer.  
  Hampel Heather et al. Surgical oncology clinics of North America 2018 Apr 27(2) 319-325
• Investigational Genomic Tool Identifies Consensus Molecular Subtype of Colon Tumor and May Predict Risk of Recurrence  
  C Helwick, ASCO Post, Mar 10, 2018
• A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer-Related Germline Mutations.  
  Braun Danielle et al. Journal of genetic counseling 2018 Mar
• ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.  
  Gelb Bruce D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization.  
  Makhnoon Sukh et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.  
  Kwong Ava et al. Oncotarget 2018 Jan 9(8) 7832-7843
• The Genomic Landscape and Pharmacogenomic Interactions of Clock Genes in Cancer Chronotherapy.  
  Ye Youqiong et al. Cell systems 2018 Mar
• A Panel of Biomarkers for Diagnosis of Prostate Cancer Using Urine Samples.  
  Guo Jinan et al. Anticancer research 2018 38(3) 1471-1477
• COX2/PTGS2 Expression Is Predictive of Response to Neoadjuvant Celecoxib in HER2 -negative Breast Cancer Patients.  
  DE Cremoux Patricia et al. Anticancer research 2018 38(3) 1485-1490
• Genomic Testing in Lung Cancer: Past, Present, and Future.  
  Mascaux Céline et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Mar 16(3) 323-334
• Working Toward Greater Precision in Childhood Cancers  
  NIH Director Blog, Mar 6, 2018
• Lynch Syndrome: Genomics Update and Imaging Review.  
  Cox Veronica L et al. Radiographics : a review publication of the Radiological Society of North America, Inc 38(2) 483-499
• Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.  
  Hauke Jan et al. Cancer medicine 2018 Mar
• NSCLC molecular testing in Central and Eastern European countries.  
  Ryska Ales et al. BMC cancer 2018 Mar 18(1) 269
• Feasibility study of contralateral risk-reducing mastectomy with breast reconstruction for breast cancer patients with BRCA mutations in Japan.  
  Yoshimura Akiyo et al. Breast cancer (Tokyo, Japan) 2018 Mar
• A 17-gene Genomic Prostate Score assay provides independent information on adverse pathology in the setting of combined mpMRI fusion-targeted and systematic prostate biopsy.  
  Salmasi Amirali et al. The Journal of urology 2018 Mar
• Primary and acquired EGFR T790M-mutant NSCLC patients identified by routine mutation testing show different characteristics but may both respond to osimertinib treatment.  
  Li Weihua et al. Cancer letters 2018 Mar
• Clinical Aspects of Microsatellite Instability Testing in Colorectal Cancer.  
  Zeinalian Mehrdad et al. Advanced biomedical research 2018 728
• ACMG responds to FDA's approval for direct-to-consumer testing for three BRCA gene mutations  
  ACMG, Mar 8, 2018
• Milan Summit On Precision Medicine  
  eCancer, Feb 2018. Watch slide presentations
• Genetic Landscape of Acute Myeloid Leukemia Interrogated by Next-generation Sequencing: A Large Cancer Center Experience.  
  Hussaini Mohammad Omar et al. Cancer genomics & proteomics 15(2) 121-126
• Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review. 
  Merker Jason D et al. Archives of pathology & laboratory medicine 2018 Mar
• Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.  
  Engel Christoph et al. BMC cancer 2018 Mar 18(1) 265
• Validation of a 10-gene molecular signature for predicting biochemical recurrence and clinical metastasis in localized prostate cancer.  
  Abou-Ouf Hatem et al. Journal of cancer research and clinical oncology 2018 Mar
• Chronic neutrophilic leukemia: 2018 update on diagnosis, molecular genetics and management.  
  Elliott Michelle A et al. American journal of hematology 2018 Aug 93(4) 578-587
• Circulating tumor cells in bladder cancer: Emerging technologies and clinical implications foreseeing precision oncology.  
  Azevedo Rita et al. Urologic oncology 2018 Mar
• Genomic complexity in pediatric synovial sarcomas (Synobio study): the European pediatric soft tissue sarcoma group (EpSSG) experience.  
  Orbach Daniel et al. Cancer medicine 2018 Mar
• Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer.  
  Katz Steven J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Mar JCO2017762369
• The genomic landscape of pediatric cancers  
  MassGenomics, Blog Mar 2018
• Test For Breast Cancer Gene Will Be Available In Weeks,  
  by Rob Stein, NPR, March 7, 2018
• Metachronous colorectal cancer risk in Lynch syndrome patients-should the endoscopic surveillance be more intensive?  
  Anyla Morgan et al. International journal of colorectal disease 2018 Mar
• Predicting cancer outcomes from histology and genomics using convolutional networks.  
  Mobadersany Pooya et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Mar
• Development and validation of an individualized diagnostic signature in thyroid cancer.  
  Han Li-Ou et al. Cancer medicine 2018 Mar
• Colorectal cancer surveillance in Portuguese families with lynch syndrome: a cohort study.  
  Vale Rodrigues Rita et al. International journal of colorectal disease 2018 Mar
• The 21-Gene Recurrence Score in Male Breast Cancer.  
  Turashvili Gulisa et al. Annals of surgical oncology 2018 Mar
• A breast multi-disciplinary genomic tumor board is feasible and can provide timely and impactful recommendations.  
  Tsung Karen et al. The breast journal 2018 Mar
• Use of adjuvant chemotherapy in hormone receptor-positive breast cancer patients with or without the 21-gene expression assay.  
  Park Soo Jin et al. Breast cancer research and treatment 2018 Mar
• Mutation detection using plasma circulating tumor DNA (ctDNA) in a cohort of asymptomatic adults at increased risk for cancer.  
  Kammesheidt Anja et al. International journal of molecular epidemiology and genetics 2018 9(1) 1-12
• Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.  
  Baxter Joseph S et al. Nature communications 2018 Mar 9(1) 1028

Chronic Disease

• Parkinson's Disease: Patients' Knowledge, Attitudes, and Interest in Genetic Counseling.  
  Maloney Kristin A et al. Journal of genetic counseling 2018 Mar
• Precision medicine in diabetes prevention, classification and management.  
  Xie Fangying et al. Journal of diabetes investigation 2018 Mar
• Next Generation Sequencing and ALS: known genes, different phenotyphes.  
  Campopiano Rosa et al. Archives italiennes de biologie 2017 Dec 155(4) 110-117
• The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.  
  Olszewska Diana A et al. Irish journal of medical science 2018 Mar
• Heritability of glaucoma and glaucoma-related endophenotypes: systematic review and meta-analysis protocol.  
  Asefa Nigus Gebrmedhin et al. BMJ open 2018 8(2) e019049
• Blood-Based Biomarker Screening with Agnostic Biological Definitions for an Accurate Diagnosis Within the Dimensional Spectrum of Neurodegenerative Diseases.  
  Baldacci Filippo et al. Methods in molecular biology (Clifton, N.J.) 2018 1750139-155
• High Blood Pressure & Kidney Disease  
  NIDDK
• Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis.  
  Golbus Jessica R et al. The American journal of medicine 2018 Mar
• Prevalence of Amyotrophic Lateral Sclerosis - United States, 2014.  
  Mehta Paul et al. MMWR. Morbidity and mortality weekly report 2018 Feb 67(7) 216-218
• The epidemiology and genetics of Amyotrophic lateral sclerosis in China.  
  Liu Xiaolu et al. Brain research 2018 Mar
• Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.  
  Martens Broes et al. Acta neurologica Belgica 2018 Mar

Ethical, Legal and Social Issues (ELSI)

• Implementing Machine Learning in Health Care - Addressing Ethical Challenges.  
  Char Danton S et al. The New England journal of medicine 2018 Mar 378(11) 981-983
• Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions.  
  Tiller Jane et al. Frontiers in public health 2018 624
• "Well, good luck with that": reactions to learning of increased genetic risk for Alzheimer disease.  
  Zallen Doris T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Why Human Germline Editing is More Problematic than Selecting Between Embryos: Ethically Considering Intergenerational Relationships.  
  Rehmann-Sutter Christoph et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2018 Apr 24(1) 9-25
• Inherited blood disorders, genetic risk and global public health: framing 'birth defects' as preventable in India.  
  Chattoo Sangeeta et al. Anthropology & medicine 2018 Apr 25(1) 30-49

General Practice

• A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat.  
  Wain Karen et al. Journal of genetic counseling 2018 Mar
• Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.  
  Amendola Laura M et al. Journal of genetic counseling 2018 Mar
• Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study.  
  Plöthner Marika et al. Pharmacogenomics and personalized medicine 2018 117-21
• Meta-research: Why research on research matters.  
  Ioannidis John P A et al. PLoS biology 2018 Mar 16(3) e2005468
• Crowdsourcing 600 Years of Human History  
  NIH Director Blog, Mar 13, 2018
• Plan Healthy Meals
  March is Nutrition Awareness Month
• Sharing Genetic Risk Information: Implications for Family Nurses Across the Life Span.  
  Metcalfe Alison et al. Journal of family nursing 2018 Feb 24(1) 86-105
• The current state of biomarkers of mild traumatic brain injury.  
  Kim Han Jun et al. JCI insight 2018 Jan 3(1)
• Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project. 
  Dheensa Sandi et al. Journal of medical ethics 2018 Mar
• Implementation of personalized medicine in Central-Eastern Europe: pitfalls and potentials based on citizen's attitude.  
  Balicza Peter et al. The EPMA journal 2018 Mar 9(1) 103-112
• Knowledge-based diagnosis and prediction using big data and deep learning in precision medicine.  
  Kim Wun-Jae et al. Investigative and clinical urology 2018 Mar 59(2) 69-71
• A Statistical Search for Genomic Truths  
  Quanta Magazine, Mar 2018
• The future is now: Technology's impact on the practice of genetic counseling.  
  Gordon Erynn S et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar
• The dawn of consumer-directed testing.  
  Ramos Erica et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar
• Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.  
  Lewis Katie L et al. American journal of human genetics 2018 Mar
• Genetic counselor training for the next generation: Where do we go from here?  
  Riconda Daniel et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar
• Genomics and Precision Medicine.  
  Kessler Christine et al. AACN advanced critical care 2018 29(1) 26-27
• Brain Safety and YOU
  March is Brain Injury Awareness Month, CDC Information
• Genomics and Precision Medicine: Implications for Critical Care.  
  Kessler Christine et al. AACN advanced critical care 2018 29(1) 28-35
• The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.  
  Stoll Katie et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar
• Impact of a genetic counseling requirement prior to genetic testing.  
  Stenehjem David D et al. BMC health services research 2018 18(1) 165
• Review and Comparison of Electronic Patient-Facing Family Health History Tools.  
  Welch Brandon M et al. Journal of genetic counseling 2018 Mar
• The Evolving Role of Multivitamin/Multimineral Supplement Use among Adults in the Age of Personalized Nutrition.  
  Blumberg Jeffrey B et al. Nutrients 2018 Feb 10(2)
• Genetics for your whole life.  
  et al. Nature genetics 2018 Feb
• Principles of Precision Prevention Science for Improving Recruitment and Retention of Participants.  
  Supplee Lauren H et al. Prevention science : the official journal of the Society for Prevention Research 2018 Mar
• Big Data and Machine Learning in Health Care.  
  Beam Andrew L et al. JAMA 2018 Mar
• A Commentary on Commercial Genetic Testing and the Future of the Genetic Counseling Profession.  
  Wolff Nicholas D et al. Journal of genetic counseling 2018 Mar
• Mindfulness Among Genetic Counselors Is Associated with Increased Empathy and Work Engagement and Decreased Burnout and Compassion Fatigue.  
  Silver Julia et al. Journal of genetic counseling 2018 Mar

Heart, Lung, Blood and Sleep Diseases

• Responses to receipt of incidental findings for familial hypercholesterolemia in adult biobank participants  
  L Jones et al, JACC, Mar 2018
• Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease.  
  Char Danton S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• The use of pharmacogenomics, epigenomics, and transcriptomics to improve childhood asthma management: Where do we stand?  
  Farzan Niloufar et al. Pediatric pulmonology 2018 Mar
• Family History of Heart Disease? Here's What to Do About It,  
  by K. Aleisha Fetters, US News & World Report, March 9, 2018
• Mass Customization, Ubiquitous Information, and Improvements to Health Outcomes in the United States.  
  Califf Robert M et al. JAMA cardiology 2018 Mar
• Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy.  
  Landry Latrice G et al. JAMA cardiology 2018 Feb
• Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing.  
  Dellefave-Castillo Lisa M et al. JAMA cardiology 2018 Feb
• Genetic Testing for Inherited Cardiac Diseases in Underserved Populations of Non-European Ancestry: Double Disparity.  
  Gerhard Glenn S et al. JAMA cardiology 2018 Feb
• Genetics of atrial fibrillation: an update.  
  Campbell Hannah M et al. Current opinion in cardiology 2018 Feb
• Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.  
  Mates Jesus et al. European journal of human genetics : EJHG 2018 Mar
• Information needs of parents of infants diagnosed with cystic fibrosis: Results of a pilot study.  
  Edwards Danielle J et al. Journal of child health care : for professionals working with children in the hospital and community 2018 Jan 1367493518760734
• Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review.  
  Shah Lisa L et al. Journal of genetic counseling 2018 Feb
• Hemophilia Drug With Big Price Tag May Be Economical In the Long Run  
  S Collins, Feb 2018
• Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study.  
  Muse Evan D et al. PLoS medicine 2018 Mar 15(3) e1002525
• Mortality in children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil.  
  Lobo Clarisse Lopes de Castro et al. Revista brasileira de hematologia e hemoterapia 40(1) 37-42
• Genetic factors contributing to hypertension in African-based populations: A systematic review and meta-analysis.  
  Yako Yandiswa Y et al. Journal of clinical hypertension (Greenwich, Conn.) 2018 Mar
• Are you at risk for clots?
  A family history of blood clots can increase a person?s risk.
• Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.  
  Russell Mark W et al. Journal of the American Heart Association 2018 Mar 7(6)
• Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.  
  Zhou Nianwei et al. European journal of medical genetics 2018 Mar
• Genetic Testing for Cardiomyopathies in Clinical Practice.  
  Ingles Jodie et al. Heart failure clinics 2018 Apr 14(2) 129-137
• Cardiac Channelopathies: Recognition, Treatment, Management.  
  Hickey Kathleen T et al. AACN advanced critical care 2018 29(1) 43-57
• Lung Disease and Genomics.  
  Wysocki Kenneth et al. AACN advanced critical care 2018 29(1) 74-83
• The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD).  
  Svirsky Ran et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Mar 1-11
• Cascade screening program for familial hypercholesterolemia.  
  Rubio-Marín Patricia et al. Endocrinologia, diabetes y nutricion 2018 Mar
• Disease-modifying genetic factors in cystic fibrosis.  
  Marson Fernando A L et al. Current opinion in pulmonary medicine 2018 Mar
• Genetics of the patent ductus arteriosus (PDA) and pharmacogenetics of PDA treatment.  
  Lewis Tamorah R et al. Seminars in fetal & neonatal medicine 2018 Feb
• Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials.  
  Maurizi Niccolò et al. Heart failure clinics 2018 Apr 14(2) 161-178
• Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.  
  Hicks Kelli L et al. Journal of vascular surgery 2018 Mar
• Epidemiology and Clinical Aspects of Genetic Cardiomyopathies.  
  Masarone Daniele et al. Heart failure clinics 2018 Apr 14(2) 119-128
• Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.  
  Herkert Johanna C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes.  
  Asatryan Babken et al. Cardiology in review 2018 Mar
• Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.  
  Mak C M et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Mar
• How One Child’s Sickle Cell Mutation Helped Protect the World From Malaria  
  C Zimmer, NY Times, Mar 8, 2018
• ODYSSEY Outcomes Results Promising for Individuals with Familial Hypercholesterolemia  
  J Knowles, the FH Foundation, Mar 10, 2018

Newborn Screening

• Newborn Screening: History, Current Status, and Future Directions.  
  El-Hattab Ayman W et al. Pediatric clinics of North America 2018 Apr 65(2) 389-405
• High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure.  
  Fullerton Brenna S et al. JPEN. Journal of parenteral and enteral nutrition 2018 Jan 42(1) 239-246
• Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis.  
  Raz Aviad E et al. Journal of community genetics 2018 Mar
• Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.  
  Kang Eungu et al. BMC pediatrics 2018 Mar 18(1) 103
• Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan.  
  Tariq Batha et al. International health 2018 Mar

Pharmacogenomics

• Pharmacogenetics and the Promise of Personalized Medicine.  
  Sabatine Marc S et al. JAMA cardiology 2018 Mar
• Pharmacogenomics and the Placebo Response.  
  Hall Kathryn T et al. ACS chemical neuroscience 2018 Mar
• Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis.  
  López-Rodríguez Rosario et al. The pharmacogenomics journal 2018 Mar
• Pharmacogenomics in Critical Care.  
  Cheek Dennis et al. AACN advanced critical care 2018 29(1) 36-42
• Pharmacogenetics and application in pediatrics.  
  Neyro Virginia et al. Therapie 2018 Feb
• New Gene Variant Robustly Linked to Opioid Addiction  
  M Brooks, Medscape, Mar 2018
• A 6-week laboratory research rotation in pharmacogenomics: a model for preparing pharmacy students to practice precision medicine.  
  Rao Prema S et al. The pharmacogenomics journal 2018 Mar

Reproductive Health

• Spotlight: What to Know About Endometriosis  
  NICHD, Mar 12, 2018
• Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.  
  Armour Christine M et al. Journal of medical genetics 2018 Mar
• Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies.  
  Reese Kathryn M et al. Journal of genetic counseling 2018 Mar
• Beyond Fetal Aneuploidy: A Call For A Contemporary Canadian Approach To Prenatal Screening.  
  Bujold Emmanuel et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Mar 40(3) 273-275
• Genetics of endometriosis: State of the art on genetic risk factors for endometriosis.  
  Fung Jenny N et al. Best practice & research. Clinical obstetrics & gynaecology 2018 Feb
• Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.  
  Baker Jessica et al. Journal of genetic counseling 2018 Mar
• Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting.  
  Narayanan Swetha et al. Journal of genetic counseling 2018 Mar
• Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?  
  Shkedi-Rafid Shiri et al. Journal of genetic counseling 2018 Mar

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.