Experiences of adolescents and their parents after receiving adolescents’ genomic screening results

2021 ◽  
Author(s):  
Natasha Lillie ◽  
Cynthia A. Prows ◽  
Michelle L. McGowan ◽  
Amy A. Blumling ◽  
Melanie F. Myers
Keyword(s):  
Genomic Screening

scholarly journals Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center

2021 ◽  
Vol 12 ◽  
pp. 215013272110002
Author(s):  
Tarika Srinivasan ◽  
Erica J. Sutton ◽  
Annika T. Beck ◽  
Idali Cuellar ◽  
Valentina Hernandez ◽  
...  
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Patient Care ◽  
Health Center ◽  
Care Provider ◽  
Primary Care Provider ◽  
Genomic Sequencing ◽  
Community Based ◽  
Genomic Screening

Introduction: Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic screening to Latino patients receiving care at a community-based health center. We examined primary care provider (PCP) experiences reporting genomic screening results and integrating those results into patient care. Methods: We conducted open-ended, semi-structured interviews with PCPs and other members of the health care team charged with supporting patients who received positive genomic screening results. Interviews were recorded, transcribed, and analyzed thematically. Results: Of the 500 patients who pursued genomic screening, 10 received results indicating a genetic variant that warranted clinical management. PCPs felt genomic screening was valuable to patients and their families, and that genomic research should strive to include underrepresented minorities. Providers identified multiple challenges integrating genomic sequencing into patient care, including difficulties maintaining patient contact over time; arranging follow-up medical care; and managing results in an environment with limited genetics expertise. Providers also reflected on the ethics of offering genomic sequencing to patients who may not be able to pursue diagnostic testing or follow-up care due to financial constraints. Conclusions: Our results highlight the potential benefits and challenges of bringing advances in precision medicine to community-based health centers serving under-resourced populations. By proactively considering patient support needs, and identifying financial assistance programs and patient-referral mechanisms to support patients who may need specialized medical care, PCPs and other health care providers can help to ensure that precision medicine lives up to its full potential as a tool for improving patient care.

Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis

2021 ◽  
Vol 132 ◽  
pp. S348-S349
Author(s):  
Emily Soper ◽  
Sabrina A. Suckiel ◽  
Giovanna Braganza ◽  
Amy Kontorovich ◽  
Eimear Kenny ◽  
...  
Keyword(s):  
High Risk ◽  
Transthyretin Amyloidosis ◽  
Genomic Screening ◽  
Hereditary Transthyretin Amyloidosis

scholarly journals Implementing genomic screening in diverse populations

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Noura S. Abul-Husn ◽  
Emily R. Soper ◽  
Giovanna T. Braganza ◽  
Jessica E. Rodriguez ◽  
Natasha Zeid ◽  
...  
Keyword(s):  
Screening Program ◽  
African Ancestry ◽  
Genomic Medicine ◽  
European Ancestry ◽  
Transthyretin Amyloidosis ◽  
Medicine Research ◽  
Screening Programs ◽  
Genomic Screening ◽  
Genomic Results ◽  
To Receive

Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

scholarly journals KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts

2017 ◽  
Vol 182 (3) ◽  
pp. e1795-e1800 ◽  
Author(s):  
Paul Kruszka ◽  
Karin Weiss ◽  
Donald W. Hadley
Keyword(s):  
Gene Variants ◽  
Kcnq1 Gene ◽  
Genomic Screening

Functional genomic screening identifies USP11 as a novel therapeutic target in breast cancer

2016 ◽  
Vol 61 ◽  
pp. S10
Author(s):  
L. Dwane ◽  
A. O’Connor ◽  
L. Mulrane ◽  
R. Klinger ◽  
A. Dirac ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Therapeutic Target ◽  
Functional Genomic ◽  
Genomic Screening ◽  
Novel Therapeutic
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