Publication Date: Oct 3, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini Enrico et al. Neuromuscular disorders : NMD 2019 Aug - Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Balasubramanian Meena et al. Molecular genetics & genomic medicine 2019 Sep e912 - Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep - Long-read sequencing for rare human genetic diseases.
Mitsuhashi Satomi et al. Journal of human genetics 2019 Sep - The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
GoodSmith Matthew S et al. Diabetes care 2019 Sep - Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Hoelz Hannes et al. Clinical EEG and neuroscience 2019 Sep 1550059419876518
Cancer
- What information do healthcare professionals need to inform premenopausal women about risk-reducing salpingo-oophorectomy?
Hickey Martha et al. Menopause (New York, N.Y.) 2019 Sep - Molecular Screening of Nasopharyngeal Carcinoma: Detection of LMP-1, LMP-2 Gene Expression in Vietnamese Nasopharyngeal Swab Samples.
Lao Thuan Duc et al. Asian Pacific journal of cancer prevention : APJCP 2019 20(9) 2757-2761 - Hereditary breast cancer: screening and risk reducing surgery.
Renzulli Matteo et al. Gland surgery 2019 Sep 8(Suppl 3) S142-S149 - Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study.
Brédart Anne et al. BMJ open 2019 Sep 9(9) e029926 - Selecting Patients for Oncotype DX Testing Using Standard Clinicopathologic Information.
Robertson Susan J et al. Clinical breast cancer 2019 Aug - Breast Cancer Chemoprevention: A Practical Guide for the Primary Care Provider.
Farkas Amy et al. Journal of women's health (2002) 2019 Sep - ---Comprehensive transcriptomic profiling identifies breast cancer patients who may be spared adjuvant systemic therapy.
Sjöström Martin et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Sep - A Value of Information Analysis of Research on the 21-Gene Assay for Breast Cancer Management.
Kunst Natalia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Oct 22(10) 1102-1110 - Screening patients at high risk for pancreatic cancer-Is it time for a paradigm shift?
Lo Winifred et al. Journal of surgical oncology 2019 Oct 120(5) 851-857 - Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome.
Dashti S Ghazaleh et al. British journal of cancer 2019 Sep
Ethical, Legal and Social Issues (ELSI)
- How American Nurses Association Code of Ethics informs genetic/genomic nursing.
Tluczek Audrey et al. Nursing ethics 2019 Aug 26(5) 1505-1517 - Ethical Challenges of Germline Genetic Enhancement.
Macpherson Ignacio et al. Frontiers in genetics 2019 10767 - Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Andrews Katrina et al. Archives of disease in childhood 2019 Sep - Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine.
Hercher Laura et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Legal Challenges in Genetics, Including Duty to Warn and Genetic Discrimination.
Suter Sonia et al. Cold Spring Harbor perspectives in medicine 2019 Sep - Challenges to informed consent for exome sequencing: A best-worst scaling experiment.
Gore Rachel H et al. Journal of genetic counseling 2019 Sep
General Practice
- Genetic testing in neurology exploiting next generation sequencing: state of art.
Di Resta Chiara et al. Neural regeneration research 2020 Feb 15(2) 265-266 - Healthcare System-Funded Preventive Genomic Screening: Challenges for Australia and Other Single-Payer Systems.
Lacaze Paul et al. Public health genomics 2019 Sep 1-5
Heart, Lung, Blood and Sleep Diseases
- Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep - Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch Jirko et al. Clinical genetics 2019 Sep - Next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants.
Bury Loredana et al. Human mutation 2019 Sep - Atrial Fibrillation Genetics Update: Toward Clinical Implementation.
Kalstø Silje Madeleine et al. Frontiers in cardiovascular medicine 2019 6127 - Parental Attitudes Towards Prenatal Genetic Testing For Sickle Cell Disease.
Stevens Evelyn M et al. Journal of pediatric hematology/oncology 2019 Sep - Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI.
Georgi Benjamin et al. Stroke 2019 Sep STROKEAHA119026545 - Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma.
Wang Rui-Sheng et al. Clinical pharmacology and therapeutics 2019 Sep - Psychological Issues in Managing Families with Inherited Cardiovascular Diseases.
Ingles Jodie et al. Cold Spring Harbor perspectives in medicine 2019 Sep
Newborn Screening
- Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai Pu et al. American journal of human genetics 2019 Sep - Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
Langfelder-Schwind Elinor et al. Journal of genetic counseling 2019 Sep - What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency.
Chong Hey J et al. Immunology and allergy clinics of North America 2019 Nov 39(4) 535-546 - Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education.
Nisselle Amy et al. Midwifery 2019 Sep 79102542
Pharmacogenomics
- Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing.
Suzuki Oscar et al. Pharmacogenomics 2019 Sep 20(14) 1005-1020 - Cost-effectiveness Analysis of CYP2D6*10 Pharmacogenetic Testing to Guide the Adjuvant Endocrine Therapy for Postmenopausal Women with Estrogen Receptor Positive Early Breast Cancer in China.
Wei Xiaoxia et al. Clinical drug investigation 2019 Sep - Pharmacogenetic testing in primary care.
Parve Julie et al. The Nurse practitioner 2019 Oct 44(10) 44-49
Reproductive Health
- Noninvasive prenatal testing: from aneuploidy to single genes.
Guseh Stephanie H et al. Human genetics 2019 Sep - Clinical value of genetic analysis in prenatal diagnosis of short femur.
Liu Jialiu et al. Molecular genetics & genomic medicine 2019 Sep e978 - Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial.
Munné Santiago et al. Fertility and sterility 2019 Sep - Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Chandler Natalie J et al. Clinical chemistry 2019 Sep - Before the beginning: the genetic risk of a couple aiming to conceive.
Simpson Joe Leigh et al. Fertility and sterility 2019 Oct 112(4) 622-630
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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