Human Genomics across the Lifespan

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Jul 12, 2018

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
• Tools/Databases

Birth Defects and Child Health

• Baby Your Baby: Make family health history part of your baby shower,  
  by Leslie Tillotson, KUTV, July 9, 2018
• Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.  
  Cabanillas Rubén et al. BMC medical genomics 2018 Jul 11(1) 58
• A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).  
  Grieco Joseph C et al. The patient 2018 Jul
• Expert consensus guidelines for the genetic diagnosis of Alport syndrome.  
  Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Jul
• Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases  
  MM Clark et al, Nature Genomic Medicine, July 2018
• Air pollution and the fetal origin of disease: A systematic review of the molecular signatures of air pollution exposure in human placenta.  
  Luyten Leen J et al. Environmental research 2018 Jun 166310-323
• Autism Genetic Complexity Comes to Light  
  GEN News Highlight, July 2018
• Children born small for gestational age: differential diagnosis, molecular-genetic evaluation and implications.  
  Finken Martijn J J et al. Endocrine reviews 2018 Jul
• Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence. 
  Fraser Harry G et al. Journal of genetic counseling 2018 Jul
• Genetic Counseling in Pediatrics.  
  Stein Quinn et al. Pediatrics in review 2018 Jul 39(7) 323-331
• Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.  
  Li Huamei et al. Medicine 2018 Jul 97(27) e11405
• Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients.  
  Karaca Neslihan Edeer et al. International journal of immunopathology and pharmacology 322058738418779458
• Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism.  
  Xu Lei et al. American journal of health behavior 2018 Jan 42(4) 3-12

Cancer

• Genetic screening can inform women of their breast and ovarian cancer risks  
  L Abaid, LA Times, July 5, 2018
• Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status.  
  Antwi Samuel O et al. Journal of the National Cancer Institute 2018 Jul
• Targeted breast screening could reduce overdiagnosis and be more cost effective, study finds.  
  Thornton Jacqui et al. BMJ (Clinical research ed.) 2018 Jul 362k3009
• Roots of leukaemia reveal possibility of predicting people at risk- Mutations in blood identify individuals at high risk of developing leukaemia  
  Sanger Institute, July 9, 2018
• The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities.  
  Brosseau Jean-Philippe et al. Neurology 2018 Jul 91(2 Supplement 1) S14-S20
• Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.  
  Castéra Laurent et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Using Genetic Risk Scores in Cancer Screening: Are We There Yet? 
  Roberts M et al, CDC Blog Post, July 5, 2018
• Skin Cancer Prevention Progress Report
  CDC, 2018
• Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening.  
  Petr Elisabeth Joye et al. Clinical diabetes and endocrinology 2018 415
• Gene expression assay and Watson for Oncology for optimization of treatment in ER-positive, HER2-negative breast cancer.  
  Kim Yun Yeong et al. PloS one 2018 13(7) e0200100
• Precision medicine applications in prostate cancer.  
  McCrea Edel M et al. Therapeutic advances in medical oncology 2018 101758835918776920
• Systemic Therapy for Patients With Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer: ASCO Clinical Practice Guideline Update.  
  Giordano Sharon H et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jun JCO2018792697
• Surgeons Influence Receipt of Genetic Testing After Breast Cancer Diagnosis  
  N Fawcett, University of Michigan Health Lab Blog, July 3, 2018
• Gene signatures for breast cancer, clinical utility and therapeutic applications  
  Vargas-Aguilar Víctor Manuel et al. Revista medica del Instituto Mexicano del Seguro Social 56(2) 180-185
• Identification of Prognostic and Susceptibility Markers in Chronic Myeloid Leukemia Using Next Generation Sequencing.  
  Shokeen Yogender et al. Ethiopian journal of health sciences 2018 Mar 28(2) 135-146
• The Genomics and Molecular Biology of Natural Killer/T-Cell Lymphoma: Opportunities for Translation.  
  de Mel Sanjay et al. International journal of molecular sciences 2018 Jun 19(7)
• Diagnosing Lung Cancer: The Complexities of Obtaining a Tissue Diagnosis in the Era of Minimally Invasive and Personalised Medicine.  
  McLean Anna E B et al. Journal of clinical medicine 2018 Jun 7(7)
• Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma.  
  Reverón Dayana et al. Cancer genomics & proteomics 15(4) 265-271
• Targeted Next-Generation Sequencing in Men with Metastatic Prostate Cancer: a Pilot Study.  
  Barata Pedro C et al. Targeted oncology 2018 Jul
• The Dilemma of HER2 Double-equivocal Breast Carcinomas: Genomic Profiling and Implications for Treatment.  
  Marchiò Caterina et al. The American journal of surgical pathology 2018 Jul
• Efficacy of the MDM2 inhibitor SAR405838 in glioblastoma is limited by poor distribution across the blood-brain barrier.  
  Kim Minjee et al. Molecular cancer therapeutics 2018 Jul
• "I Am Uncertain About What My Uncertainty Even Is": Men's Uncertainty and Information Management of Their BRCA-Related Cancer Risks.  
  Rauscher Emily A et al. Journal of genetic counseling 2018 Jul
• The Value of a Second Opinion for Breast Cancer Patients Referred to a National Cancer Institute (NCI)-Designated Cancer Center with a Multidisciplinary Breast Tumor Board.  
  Garcia Denise et al. Annals of surgical oncology 2018 Jul
• Somatic mutations precede acute myeloid leukemia years before diagnosis.  
  Desai Pinkal et al. Nature medicine 2018 Jul 24(7) 1015-1023
• Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.  
  Vos Shoko et al. The American journal of surgical pathology 2018 Jul
• Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.  
  Capper David et al. Acta neuropathologica 2018 Jul
• Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.  
  Baert-Desurmont Stéphanie et al. European journal of human genetics : EJHG 2018 Jul
• Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency.  
  Pearlman Rachel et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jul
• Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high risk disease.  
  Branford Susan et al. Blood 2018 Jul
• 65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer.  
  Tan Zi Ying et al. Endocrine-related cancer 2018 Aug 25(8) T141-T158
• Broadening the View of Germline Mutations in Kidney Cancer.  
  Pilié Patrick G et al. JAMA oncology 2018 Jul
• Endometrial cancer prognosis correlates with the expression of L1CAM and miR34a biomarkers.  
  Corrado Giacomo et al. Journal of experimental & clinical cancer research : CR 2018 Jul 37(1) 139
• Challenges in Diagnosing Myelodysplastic Syndromes in the Era of Genetic Testing: Proceedings of the 13th Workshop of the European Bone Marrow Working Group.  
  Hebeda Konnie M et al. Pathobiology : journal of immunopathology, molecular and cellular biology 2018 Jul 1-14
• Evaluation of GWAS-Identified Genetic Variants for Gastric Cancer Survival.  
  Gu Dongying et al. EBioMedicine 2018 Jul
• Clinical utility of the S3-score for molecular prediction of outcome in non-metastatic and metastatic clear cell renal cell carcinoma.  
  Büttner Florian et al. BMC medicine 2018 Jul 16(1) 108
• Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.  
  Carlo Maria I et al. JAMA oncology 2018 Jul

Chronic Disease

• Predictors of Treatment Response in Rheumatoid Arthritis.  
  Lequerré Thierry et al. Joint, bone, spine : revue du rhumatisme 2018 Jul
• New Genetic Links to Depression May Pave the Way for Novel Treatment Strategies.  
  Hampton Tracy et al. JAMA 2018 Jul 320(1) 20-21
• The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?  
  Kato Masaru et al. Rheumatology international 2018 Apr
• A decade in psychiatric GWAS research.  
  Horwitz Tanya et al. Molecular psychiatry 2018 Jun
• GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity.  
  Speakman J R et al. International journal of obesity (2005) 2018 Jul
• Disease of the Week: Arthritis 
• Identification of a gene-expression predictor for diagnosis and personalized stratification of lupus patients.  
  Ding Yan et al. PloS one 2018 13(7) e0198325
• Editorial: Turning Point towards Blood Biomarker-Guided Targeted Therapy for Precision Medicine in Alzheimer's disease.  
  Hampel H et al. The journal of prevention of Alzheimer's disease 2018 5(3) 160-164
• Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.  
  Goldman Jill S et al. Molecular diagnosis & therapy 2018 Jul
• Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease.  
  Stuttgen K M et al. Journal of genetic counseling 2018 Jul
• The Limits and Potential Future Applications of Personalized Medicine to Prevent Complex Chronic Disease.  
  Bergquist Sharon Horesh et al. Public health reports (Washington, D.C. : 1974) 2018 Jan 33354918781568
• Towards an individual screening strategy for first-degree relatives of celiac patients.  
  Wessels Margaretha M S et al. European journal of pediatrics 2018 Jul
• Genomic underpinnings of lifespan allow prediction and reveal basis in modern risks  
  TR Timmers et al, BioRXIV, July 2018

Ethical, Legal and Social Issues (ELSI)

• Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations.  
  Issa Amalia M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Normative and conceptual ELSI research: what it is, and why it's important.  
  Parker Lisa S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• The Ethical, Legal and Regulatory Issues Associated with Pharmacogenomics: Systematically Quantifying the Literature.  
  Hewitt Jayne E et al. Journal of law and medicine 2018 Apr 25(3) 782-793
• Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians.  
  Bilkey Gemma A et al. Frontiers in public health 2018 6183
• Separating Risk Assessment from Risk Management Poses Legal and Ethical Problems in Person-Centred Care.  
  Kaltoft Mette Kjer et al. Studies in health technology and informatics 2018 25123-26
• The UK National DNA Database: Implementation of the Protection of Freedoms Act 2012.  
  Amankwaa Aaron Opoku et al. Forensic science international 2018 Mar 284117-128
• Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.  
  Saelaert Marlies et al. European journal of human genetics : EJHG 2018 Jul
• Ethical Issues of Using CRISPR Technologies for Research on Military Enhancement.  
  Greene Marsha et al. Journal of bioethical inquiry 2018 Jul

General Practice

• Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.  
  Ormond Kelly E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Web-Based Platform vs Genetic Counselors in Educating Patients About Carrier Results From Exome Sequencing.  
  Yen Yun et al. JAMA internal medicine 2018 Jul 178(7) 998-999
• Web-Based Platform vs Genetic Counselors in Educating Patients About Carrier Results From Exome Sequencing-Reply.  
  Biesecker Barbara B et al. JAMA internal medicine 2018 Jul 178(7) 999
• How Routine Genomic Medicine 'Will Change People's Lives'  
  P Russell, Medscape, July 11, 2018
• Program is first to use the patient’s DNA in routine healthcare to better treat or prevent disease  
  Geisinger, July 10, 2018
• Individual Research Results Should Be Shared With Participants More Often, Says New Report; Recommends Framework for Decision-Making 
  NASEM, July 10, 2018
• When Reporting on Mail-In Genetic Testing Comes Home,  
  by Gina Kolata, the New York Times, July 3, 2018
• Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians  
  NM Davis, BMJ, July 12, 2018
• Toward Capturing the Exposome: Exposure Biomarker Variability and Co-Exposure Patterns in the Shared Environment.  
  Chung Ming Kei et al. Environmental science & technology 2018 Jul
• The Online Gene Test Finds a Dangerous Mutation. It May Well Be Wrong.  
  By Gina Kolata, the New York Times, July 2, 2018
• Health informatics: a required skill for 21st century clinicians  
  DB Fridsma, BMJ, July 11, 2018
• How Routine Genomic Medicine 'Will Change People's Lives'  
  P Russell, Medscape, July 11, 2018
• Bringing Us Closer to Understanding Health and Disease at an Individual Level  
  E Ramos. ASHG Blog, July 2018
• CRISPR-Cas systems: ushering in the new genome editing era.  
  Perez Rojo Fernando et al. Bioengineered 2018 9(1) 214-221
• Knowledge-for-data trade at the interface between precision medicine and person-centered care.  
  Gajovic Srecko et al. Croatian medical journal 2018 Jun 59(3) 132-135
• Predicting smoking abstinence with biological and self-report measures of adherence to varenicline: Impact on pharmacogenetic trial outcomes. 
  Peng Annie R et al. Drug and alcohol dependence 2018 Jun 19072-81
• GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet".  
  Audí Laura et al. European journal of endocrinology 2018 Jul
• Dried Blood Spots for Global Health Diagnostics and Surveillance: Opportunities and Challenges.  
  Lim Mark D et al. The American journal of tropical medicine and hygiene 2018 Jul
• When to consider a genetic test.  
  et al. Journal of the American Association of Nurse Practitioners 2018 Jul 30(7) 366-367
• Mitochondrial DNA transcription and translation: clinical syndromes.  
  Boczonadi Veronika et al. Essays in biochemistry 2018 Jul
• Genetic counseling students' experiences with mental illness during training: An exploratory study.  
  Cantor Anna et al. Journal of American college health : J of ACH 2018 Jul 0
• Reporting of Clinical Genome Sequencing Results.  
  Song Cui et al. Current protocols in human genetics 2018 Jul e61
• Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.  
  Son Jung Hoon et al. American journal of human genetics 2018 Jul 103(1) 58-73

Heart, Lung, Blood and Sleep Diseases

• Risk Assessment for Cardiovascular Disease With Nontraditional Risk Factors - US Preventive Services Task Force Recommendation Statement 
  JAMA, July 10, 2018
• Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy.  
  Galema-Boers Annette M et al. Journal of clinical lipidology 12(2) 409-416
• Genetic and Lifestyle Risks for CVD and Diabetes  
  ACC, July 4, 2018
• Gene edited monkeys offer hope for heart disease patients  
  J Kaiser, Science, July 9, 2018
• Sex differences in cholesterol levels from birth to 19 years of age may lead to increased cholesterol burden in females with FH.  
  Holven Kirsten B et al. Journal of clinical lipidology 12(3) 748-755.e2
• Adapting medical guidelines to be patient-centered using a patient-driven process for individuals with sickle cell disease and their caregivers.  
  Cronin Robert Michael et al. BMC hematology 2018 1812
• Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".  
  Moulin Philippe et al. Atherosclerosis 2018 Jun 275265-272
• Advances in managing COPD related to α 1 -antitrypsin deficiency, an under-recognized genetic disorder.  
  Craig Timothy J et al. Allergy 2018 Jul
• Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants.  
  Pereira Andreia et al. Arquivos brasileiros de cardiologia 2018 Jul
• Genetic Testing for Familial Hypercholesterolemia among Survivors of Acute Coronary Syndrome.  
  Benedek Peter et al. Journal of internal medicine 2018 Jul

Newborn Screening

• The BabySeq project: implementing genomic sequencing in newborns.  
  Holm Ingrid A et al. BMC pediatrics 2018 Jul 18(1) 225
• SMA Test Added to Newborn Screening Recommendations  
  Frontline Genomics, July 6, 2018
• Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease.  
  Nguyen-Khoa Thao et al. Annales de biologie clinique 2018 Jul
• Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.  
  Delgado Pecellín Isabel et al. Archivos de bronconeumologia 2018 Jul

Pharmacogenomics

• Effects of CYP2D6 genetic polymorphisms on the efficacy and safety of fluvoxamine in patients with depressive disorder and comorbid alcohol use disorder.  
  Zastrozhin Mikhail Sergeevich et al. Pharmacogenomics and personalized medicine 2018 11113-119
• Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial.  
  Syn Nicholas L et al. BMC medicine 2018 Jul 16(1) 104
• SLCO1B1 c.521T>C Genotyping in the Austrian Population Using 2 Commercial Real-Time Polymerase Chain Reaction Assays: An Implementation Study.  
  Enko Dietmar et al. Pharmacology 2018 Jun 102(1-2) 88-90
• Clozapine pharmacogenomics: a review of efficacy, pharmacokinetics, and agranulocytosis.  
  Li Kevin J et al. Current opinion in psychiatry 2018 Jul
• An Unnecessary Pain: Using Pharmacogenetics for Statin-related Skeletal Muscle Toxicity.  
  Alzghari Saeed K et al. Cureus 2018 Apr 10(4) e2557

Reproductive Health

• Non-invasive prenatal testing: public and doctors should be consulted, says BMA.  
  Iacobucci Gareth et al. BMJ (Clinical research ed.) 2018 Jul 362k2916
• Prenatal chromosomal microarray uptake with invasive prenatal diagnosis: How many patients take the leap?  
  Singletary Claire N et al. Prenatal diagnosis 2018 Jul

Tools/Databases

• Phenolyzer  
  Phenolyzer stands for Phenotype Based Gene Analyzer, a tool focusing on discovering genes based on user-specific disease/phenotype terms.

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.