A Demand To Laboratories For Greater Transparency, Validation, and Inclusivity for PGS


A Demand To Laboratories For Greater Transparency, Validation, and Inclusivity for PGS
The Issue
As genetic testing laboratories continue to improve or develop PGS (polygenic scores), we ask for the following:
- Transparency by genetic testing laboratories offering PGS.
- Is this PGS performing equitably across ancestries? If marketed towards diverse patient use but without actual equal performance this could be misleading, at best, and potentially harmful to patients, at worst.
- Is there clinical utility currently for this PGS? Providers should not be told that PGS will help with clinical management or qualifying for high risk cancer screenings so long as NCCN and other governing bodies recommend against such.
- Validation and equal power across all populations.
- Who can use this PGS? Given the development of PGS for use in non-European populations, there should not be movement backward. All future PGS options should be available and validated in diverse populations.
- How well does this PGS perform in diverse populations? There should be equal power and validation across all ancestral groups; it should not perform better or worse for one group over another.
- Demonstration of true commitment to inclusion and equity for patients by addressing underlying barriers.
- What research and data is this PGS based on? Eighty-four percent of GWAS participants in cancer risk studies are of European ancestry. This GWAS data has been the foundation of all genetic testing (including PGS). We encourage researchers to foster a culture of transparency and trust with underrepresented populations with goals of obtaining ancestrally diverse representative data. Therefore, allowing for development of wholly new PGS and mitigating the need to reanalyze the currently available and ancestrally limited data.
- What relationships are involved? Who are the collaborators? Bias exists in many areas of medicine; limiting that bias should be done whenever possible. Collaboration with and funding for groups specifically focused on diverse experiences, such as patient advisory boards and community-based participatory research projects, should be prioritized.
- How are other barriers or health disparities being addressed by laboratories offering PGS? Health disparities in genetics, such as access to genetic counselors or germline testing and higher rates of variants of uncertain significance for patients who are from underrepresented populations, already exist. Although race is a social construct, disparities of testing and healthcare based on ancestry further exacerbate racial inequities. True commitment to inclusion and equity does not stop at PGS. Rather, it is necessary to address across all areas of genetics and throughout other health care specialties.
Katie ChurchPetition Starter
This petition had 137 supporters
The Issue
As genetic testing laboratories continue to improve or develop PGS (polygenic scores), we ask for the following:
- Transparency by genetic testing laboratories offering PGS.
- Is this PGS performing equitably across ancestries? If marketed towards diverse patient use but without actual equal performance this could be misleading, at best, and potentially harmful to patients, at worst.
- Is there clinical utility currently for this PGS? Providers should not be told that PGS will help with clinical management or qualifying for high risk cancer screenings so long as NCCN and other governing bodies recommend against such.
- Validation and equal power across all populations.
- Who can use this PGS? Given the development of PGS for use in non-European populations, there should not be movement backward. All future PGS options should be available and validated in diverse populations.
- How well does this PGS perform in diverse populations? There should be equal power and validation across all ancestral groups; it should not perform better or worse for one group over another.
- Demonstration of true commitment to inclusion and equity for patients by addressing underlying barriers.
- What research and data is this PGS based on? Eighty-four percent of GWAS participants in cancer risk studies are of European ancestry. This GWAS data has been the foundation of all genetic testing (including PGS). We encourage researchers to foster a culture of transparency and trust with underrepresented populations with goals of obtaining ancestrally diverse representative data. Therefore, allowing for development of wholly new PGS and mitigating the need to reanalyze the currently available and ancestrally limited data.
- What relationships are involved? Who are the collaborators? Bias exists in many areas of medicine; limiting that bias should be done whenever possible. Collaboration with and funding for groups specifically focused on diverse experiences, such as patient advisory boards and community-based participatory research projects, should be prioritized.
- How are other barriers or health disparities being addressed by laboratories offering PGS? Health disparities in genetics, such as access to genetic counselors or germline testing and higher rates of variants of uncertain significance for patients who are from underrepresented populations, already exist. Although race is a social construct, disparities of testing and healthcare based on ancestry further exacerbate racial inequities. True commitment to inclusion and equity does not stop at PGS. Rather, it is necessary to address across all areas of genetics and throughout other health care specialties.
Katie ChurchPetition Starter
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Petition created on April 5, 2023