Publication Date: Jul 23, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Evaluating the Diagnostic and Prognostic Value of Biomarkers for Heart Disease and Major Adverse Cardiac Events in Patients With Muscular Dystrophy.
Nikhanj Anish et al. European heart journal. Quality of care & clinical outcomes 2020 Jul - Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings.
Sulmonte Laura A G et al. Journal of genetic counseling 2020 Jul - International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up and management.
Altassan Ruqaiah et al. Journal of inherited metabolic disease 2020 Jul - Plasma Methylcitric Acid and Its Correlations With Other Disease Biomarkers: The Impact in The Follow Up of Patients With Propionic and Methylmalonic Acidemia.
Maines E et al. Journal of inherited metabolic disease 2020 Jul - EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Carroll Renee et al. European journal of medical genetics 2020 Jul 104010 - The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service.
Besterman Aaron D et al. Autism research : official journal of the International Society for Autism Research 2020 Jul - Genetic Variants in Children with Chronic Respiratory Diseases.
Alsamri Mohammed T et al. Pediatric pulmonology 2020 Jul - Parental genetic knowledge and attitudes toward childhood genetic testing for inherited eye diseases.
Zhang Yu et al. Molecular genetics & genomic medicine 2020 Jul e1402
Cancer
- Colorectal cancer risk based on extended family history and body mass index.
Ochs-Balcom Heather M et al. Genetic epidemiology 2020 Jul - Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora Alisa et al. Cancers 2020 Jul 12(7) - Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Barnes Daniel R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome.
Mitamura Takashi et al. Japanese journal of clinical oncology 2020 Jul - Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial.
Anderson Nassim et al. Journal of community genetics 2020 Jul - Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.
Guillerm Erell et al. European journal of human genetics : EJHG 2020 Jul - Current status of genetic urinary biomarkers for surveillance of non-muscle invasive bladder cancer: a systematic review.
Lozano F et al. BMC urology 2020 Jul 20(1) 99 - Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer.
Xiao Binyi et al. European journal of human genetics : EJHG 2020 Jul - Year 1: Experiences of a tertiary cancer centre following implementation of reflex BRCA1 and BRCA2 tumor testing for all high-grade serous ovarian cancers in a universal healthcare system.
McCuaig Jeanna M et al. Gynecologic oncology 2020 Jul - Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.
de Angelis de Carvalho Nathália et al. Cancers 2020 Jul 12(7)
Chronic Disease
- Recipient and donor genetic variants associated with mortality after allogeneic hematopoietic cell transplantation.
Martin Paul J et al. Blood advances 2020 Jul 4(14) 3224-3233 - Gene variants and treatment outcomes in antineutrophil cytoplasmic antibody-associated vasculitis.
Hessels Arno C et al. The pharmacogenomics journal 2020 Jul - The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review.
Hentgen Véronique et al. Frontiers in immunology 2020 11971
Ethical, Legal and Social Issues (ELSI)
- Assessing the Intention to Provide Human Genetic Resources: An Explanatory Model.
Qin Qin et al. Public health genomics 2020 Jul 1-16 - Presymptomatic Testing and Confidentiality in the Age of the Electronic Medical Record.
Black Kevin J et al. The Journal of neuropsychiatry and clinical neurosciences 2020 Jul appineuropsych20030068 - Relationships of Family History-related Factors and Causal Beliefs to Cancer Risk Perception and Mammography Screening Adherence Among Medically Underserved Women.
Hong Soo Jung et al. Journal of health communication 2020 Jul 1-12 - Participant choices for return of genomic results in the eMERGE Network.
Hoell Christin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - THE GORDON WILSON LECTURE: THE ETHICS OF HUMAN GENOME EDITING.
Coller Barry S et al. Transactions of the American Clinical and Climatological Association 2020 13199-118 - Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems.
Kurnat-Thoma Emma et al. Network and systems medicine 2020 3(1) 58-66
General Practice
- Perceptions of genetic risk, testing, and counseling among individuals with eating disorders.
Michael Julianne E et al. The International journal of eating disorders 2020 Jul - Patient reactions to receiving negative genomic screening results by mail.
Stuttgen Kelsey et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul
Heart, Lung, Blood and Sleep Diseases
- Familial hypercholesterolaemia New directions on diagnosis and treatment of an old disease.
Rallidis Loukianos S et al. Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese 2020 Jul - Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Robinson H K et al. Clinical genetics 2020 Jul - SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia.
Gallo Antonio et al. Atherosclerosis 2020 Jul 30641-49 - An NGS-based genotyping in LQTS; minor genes are no longer minor.
Ohno Seiko et al. Journal of human genetics 2020 Jul - Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease.
Abbasciano R G et al. Trials 2020 Jul 21(1) 656 - "Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.
Podgórski Michal et al. Lipids in health and disease 2020 Jul 19(1) 169 - Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.
Lopez-Campos Jose Luis et al. Archivos de bronconeumologia 2020 Jul - Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia.
Lamiquiz-Moneo Itziar et al. Revista espanola de cardiologia (English ed.) 2020 Jul - Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark Veronika C et al. Genes 2020 Jul 11(7) - An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study.
Al-Samkari Hanny et al. Haematologica 2020 Jul - Pattern of haemoglobin phenotypes in newborn infants at the national hospital abuja using high performance liquid chromatography.
Mohammed-Nafi'u Ramatu et al. The Nigerian postgraduate medical journal 27(3) 190-195
Newborn Screening
- Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
Zengin Akkus P et al. European journal of pediatrics 2020 Jul - Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Weiss Katharina J et al. Annals of nutrition & metabolism 2020 Jul 1-9 - Cystic fibrosis diagnosed by state newborn screening: Or is it?
Fox Maura et al. SAGE open medical case reports 2020 82050313X20939421
Pharmacogenomics
- Attitudes on pharmacogenetic testing in psychiatric patients with treatment-resistant depression.
McCarthy Michael J et al. Depression and anxiety 2020 Jul - Group-based pharmacogenetic prediction: is it feasible and do current NHS England ethnic classifications provide appropriate data?
Ingram Catherine J E et al. The pharmacogenomics journal 2020 Jul - Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection.
Beitelshees Amber L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul - Pharmacogenomics in kidney transplant recipients and potential for integration into practice.
Nguyen Tam T et al. Journal of clinical pharmacy and therapeutics 2020 Jul - Using pharmacogenomics and therapeutic drug monitoring to guide drug selection and dosing in outpatient mental health comprehensive medication management.
Brown Jacob T et al. The mental health clinician 2020 Jul 10(4) 254-258 - Enrollment of Diverse Populations in the INGENIOUS Pharmacogenetics Clinical Trial.
Shah-Williams Ebony et al. Frontiers in genetics 2020 11571 - The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort.
Al Ammari Maha et al. Scientific reports 2020 Jul 10(1) 11613
Reproductive Health
- Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
Giles Juan et al. Fertility and sterility 2020 Jul - Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.
Yang Xin et al. Prenatal diagnosis 2020 Jul - Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Kirk Edwin P et al. European journal of human genetics : EJHG 2020 Jul - Study of Relationship Between Mode of Conception and Non-Specific Psychological Distress in Women Undergoing Noninvasive Prenatal Testing.
Suzumori Nobuhiro et al. Journal of reproduction & infertility 21(3) 189-193
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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