Ethical and Policy Issues in Clinical Genetics and Genomics

Author(s):  
Leila Jamal
2013 ◽  
Vol 16 (6) ◽  
pp. 491-494 ◽  
Author(s):  
Rene Almeling ◽  
Shana Kushner Gadarian

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 ◽  
...  

Author(s):  
Amal Elfatih ◽  
Idris Mohammed ◽  
Doua Abdelrahman ◽  
Borbala Mifsud

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.


2021 ◽  
pp. 1-10
Author(s):  
Yashoda Sharma ◽  
Livia Cox ◽  
Lucie Kruger ◽  
Veena Channamsetty ◽  
Susanne B. Haga

<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.


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