Clinical Genetics and Genomics of Aging

2020 ◽  
Keyword(s):  
Clinical Genetics ◽  
Genetics And Genomics

scholarly journals Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics

2019 ◽  
Vol 104 (2) ◽  
pp. 193-196 ◽  
Author(s):  
William M.P. Klein ◽  
Colleen M. McBride ◽  
Caitlin G. Allen ◽  
Elva M. Arredondo ◽  
Cinnamon S. Bloss ◽  
...  
Keyword(s):  
Behavioral Medicine ◽  
Clinical Genetics ◽  
Optimal Integration ◽  
Genetics And Genomics

scholarly journals Frequency and management of medically actionable incidental findings from genome and exome sequencing data; A systematic review

2021 ◽  
Author(s):  
Amal Elfatih ◽  
Idris Mohammed ◽  
Doua Abdelrahman ◽  
Borbala Mifsud
Keyword(s):  
Exome Sequencing ◽  
Incidental Findings ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Sequencing Data ◽  
Sequencing Technologies ◽  
Pathogenic Variants ◽  
Sequencing Studies ◽  
Different Populations ◽  
Genetics And Genomics

The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the epidemiology of incidental findings in different populations. However, consensus guidelines for variant reporting and classification are still lacking. We conducted a systematic literature review of incidental findings in whole genome/exome sequencing studies to obtain a comprehensive understanding of variable reporting and classification methods for variants that are deemed to be medically actionable across different populations. The review highlights the elements that demand further consideration or adjustment.

scholarly journals Evaluating Primary Care Providers’ Readiness for Delivering Genetic and Genomic Services to Underserved Populations

2021 ◽  
pp. 1-10
Author(s):  
Yashoda Sharma ◽  
Livia Cox ◽  
Lucie Kruger ◽  
Veena Channamsetty ◽  
Susanne B. Haga
Keyword(s):  
Primary Care ◽  
Precision Medicine ◽  
Health Center ◽  
Underserved Populations ◽  
Care Delivery ◽  
Primary Care Providers ◽  
Clinical Genetics ◽  
Care Providers ◽  
Genetic Tests ◽  
Genetics And Genomics

<b><i>Introduction:</i></b> Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider awareness, knowledge, and perceived importance are important determinants of the utilization of genomic applications. <b><i>Methods:</i></b> We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers’ education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice. <b><i>Results:</i></b> Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing. <b><i>Conclusion:</i></b> Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients, though would like more education on applying genetics and genomics into their practice, and more training about discussing risk factors associated with race or ethnicity. We provide further evidence of the need for educational resources and standardized guidelines for providers caring for underserved populations to optimize appropriate use and referral of genetic and genomic services and to reduce disparities in care.

Clinical Genetics and Genomics (Oxford Desk Reference)

2017 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst
Keyword(s):  
Common Sense ◽  
Medical Genetics ◽  
Data Sources ◽  
Clinical Genetics ◽  
First Line ◽  
Web Resources ◽  
Clinical Consultation ◽  
Clinical Geneticist ◽  
Genetics And Genomics ◽  
Desk Reference

This book on clinical genetics and genomics includes many common-sense approaches, useful standards and definitions, suggestions for appropriate testing, and excellent references. It is meant to be ‘first-line’ support. It is designed to provide a basic guide to the clinical consultation, be it in outpatients or on the ward, and is intended to be used with other data sources, web resources, and texts. Blank pages are distributed throughout the book to enable the reader to update and personalize the copy with notes from current journals, guidelines, seminars, and lectures. Medical genetics trainees, residents, and fellows should particularly find this book useful; the mature and experienced clinical geneticist should also find it useful and thoughtfully constructed.

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