Publication Date: Jun 20, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 Jun 14(1) 137 - Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli Luca et al. Molecular genetics & genomic medicine 2019 Jun e796 - Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts Peer et al. Genome medicine 2019 Jun 11(1) 38 - Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid Muhammad Kassim et al. Orphanet journal of rare diseases 2019 Jun 14(1) 139 - Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun
Cancer
- Radiomics signature on 3T dynamic contrast-enhanced magnetic resonance imaging for estrogen receptor-positive invasive breast cancers: Preliminary results for correlation with Oncotype DX recurrence scores.
Nam Kyung Jin et al. Medicine 2019 Jun 98(23) e15871 - Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.
Sudhakar Sniya Valsa et al. Indian journal of pediatrics 2019 Jun - The evolving landscape of precision medicine in primary liver cancer.
Martin Sean P et al. Hepatic oncology 2019 Jun 6(2) HEP12 - An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Suerink Manon et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome.
Jain A et al. Digestive diseases and sciences 2019 Jun - Impact of biomarkers and genetic profiling on breast cancer prognostication: A comparative analysis of the 8th edition of breast cancer staging system.
Yoon Esther C et al. The breast journal 2019 Jun - Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature.
Lombardi Lucia et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2019 Jun - Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.
Fritsche Lars G et al. PLoS genetics 2019 Jun 15(6) e1008202 - Talking about risk in the context of genomic tests (TARGET): development and evaluation of an educational program for clinicians.
Fallowfield L et al. Breast cancer research and treatment 2019 Jun - Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
Neben Cynthia L et al. The Journal of molecular diagnostics : JMD 2019 Jun - Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification.
Läll Kristi et al. BMC cancer 2019 Jun 19(1) 557 - Risk stratification of ER-positive breast cancer patients: A multi-institutional validation and outcome study of the Rochester Modified Magee algorithm (RoMMa) and prediction of an Oncotype DX ® recurrence score <26.
Turner Bradley M et al. Cancer medicine 2019 Jun - Female family members lack understanding of indeterminate negative BRCA1/2 test results shared by probands.
Himes Deborah O et al. Journal of genetic counseling 2019 Jun - Uptake of the 21-Gene Assay Among Women With Node-Positive, Hormone Receptor-Positive Breast Cancer.
Roberts Megan C et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 Jun 17(6) 662-668 - Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non- BRCA1/2 breast cancer families.
Lakeman Inge M M et al. Journal of medical genetics 2019 Jun - Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Nasrallah MacLean P et al. Academic pathology 62374289519848353 - Challenges of Providing Concordant Interpretation of Somatic Variants in Non-Small Cell Lung Cancer: A Multicenter Study.
Gao Peng et al. Journal of Cancer 2019 10(8) 1814-1824
Chronic Disease
- Driving Precision Medicine through Proteomics and Metabolomics - 12th Central and Eastern European Proteomic Conference (CEEPC), Bucharest, Romania.
Gadher Suresh Jivan et al. Expert review of proteomics 2019 Jun 1-4 - A mixed-methods study of cultural beliefs about dementia and genetic testing among Mexicans and Mexican-Americans at-risk for autosomal dominant Alzheimer's disease.
Withers Mellissa et al. Journal of genetic counseling 2019 Jun - Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.
Stanwyck Lynn K et al. American journal of ophthalmology case reports 2019 Sep 15100461 - Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo Sushan et al. BMC neurology 2019 May 19(1) 92 - Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.
Rowczenio Dorota et al. European journal of human genetics : EJHG 2019 Jun - Genetics of Atopic Dermatitis: From DNA Sequence to Clinical Relevance.
Løset Mari et al. Dermatology (Basel, Switzerland) 2019 Jun 1-10
Ethical, Legal and Social Issues (ELSI)
- Proprietary Algorithms for Polygenic Risk: Protecting Scientific Innovation or Hiding the Lack of It?
Janssens A Cecile J W et al. Genes 2019 Jun 10(6) - Democratizing Precision Medicine Through Community Engagement.
Fohner Alison E et al. Clinical pharmacology and therapeutics 2019 Jun - Is it acceptable to contact an anonymous egg donor to facilitate diagnostic genetic testing for the donor-conceived child?
Horton Rachel et al. Journal of medical ethics 2019 Jun
General Practice
- Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.
Robinson Jill O et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Challenges and strategies proposed by genetic health professionals to assist with family communication.
Young Alison L et al. European journal of human genetics : EJHG 2019 Jun - Consistency of Direct to Consumer Genetic Testing Results Among Identical Twins.
Huml Anne M et al. The American journal of medicine 2019 Jun - The Clinical Autopsy and Genetic Testing.
Sklar Jeffrey et al. The American journal of pathology 2019 Jun - Bridging the gap in genetics: a progressive model for primary to specialist care.
Harding Brittany et al. BMC medical education 2019 Jun 19(1) 195
Heart, Lung, Blood and Sleep Diseases
- Treatment with Statins Does Not Revert Trained Immunity in Patients with Familial Hypercholesterolemia.
Bekkering Siroon et al. Cell metabolism 2019 May - Proteomic investigations into hypertension: what's new and how might it affect clinical practice?
Corbacho-Alonso N et al. Expert review of proteomics 2019 Jun - DBDS Genomic Cohort, a prospective and comprehensive resource for integrative and temporal analysis of genetic, environmental and lifestyle factors affecting health of blood donors.
Hansen Thomas Folkmann et al. BMJ open 2019 Jun 9(6) e028401 - "Investigation of an Immunogenetic profile in patients with Abdominal Aortic Aneurysms and possible applications in screening and surveillance".
Anaya-Ayala Javier E et al. Annals of vascular surgery 2019 Jun - Current perspectives of Sickle Cell Disease in Nigeria: Changing the narratives.
Ojewunmi Oyesola O et al. Expert review of hematology 2019 Jun - Machine-learning to stratify diabetic patients using novel cardiac biomarkers and integrative genomics.
Hathaway Quincy A et al. Cardiovascular diabetology 2019 Jun 18(1) 78 - Updated Expert Consensus Statement on Platelet Function and Genetic Testing for Guiding P2Y 12 Receptor Inhibitor Treatment in Percutaneous Coronary Intervention.
Sibbing Dirk et al. JACC. Cardiovascular interventions 2019 Jun - Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer Julie et al. European journal of preventive cardiology 2019 Jun 2047487319854552
Pharmacogenomics
- Patient characteristics, experiences and perceived value of pharmacogenetic testing from a single testing laboratory.
Haga Susanne B et al. Pharmacogenomics 2019 Jun 20(8) 581-587 - Estimated nationwide impact of implementing a preemptive pharmacogenetic panel approach to guide drug prescribing in primary care in The Netherlands.
Bank P C D et al. BMC medicine 2019 Jun 17(1) 110 - Pharmacogenetic testing in primary care practice: opinions of physicians, pharmacists and patients.
Frigon Marie-Pier et al. Pharmacogenomics 2019 Jun 20(8) 589-598 - PGxO and PGxLOD: a reconciliation of pharmacogenomic knowledge of various provenances, enabling further comparison.
Monnin Pierre et al. BMC bioinformatics 2019 Apr 20(Suppl 4) 139
Reproductive Health
- Mothers of a child with Down syndrome: A qualitative analysis of the perspectives on non-invasive prenatal testing.
Valentin Chelsea et al. Midwifery 2019 Jun 76118-124 - Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.
Chau Matthew Hoi Kin et al. American journal of obstetrics and gynecology 2019 Jun - The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis.
Prefumo Federico et al. PloS one 2019 14(6) e0218166
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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