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Developing an Actionability Framework for Population Genomic Screening

Health Services and Implementation
  • Primary Categories:
    • Public Health Genetics
  • Secondary Categories:
    • Public Health Genetics
Introduction:
Population genomic screening programs have continued to arise in recent years, but guidance is lacking on how to determine which genes and conditions are sufficiently actionable to include in screening programs. The ACMG Secondary Findings Committee has explicitly stated that conditions considered appropriate for disclosure as secondary findings from clinical genomic sequencing are not necessarily appropriate for population screening. Aside from the “CDC Tier 1” list that was endorsed by a roundtable group from the National Academies of Science and Medicine, there are essentially no recommendations for screening of the general population for monogenic diseases. Building upon work of the ClinGen Actionability Working Group (AWG), the Population Genomic Screening Working Group was established to create a new framework to guide gene and condition selection for inclusion in population genomic screening programs.
 

 





Methods:
 The Population Genomic Screening actionability framework is being developed by a workgroup with expertise in public health, medical genetics, health services, health economics, implementation science, and bioethics. This diverse group includes members with varying levels of involvement with the ClinGen consortium and with population genomic screening programs. As the preliminary framework is finalized, the group plans to receive feedback from the genomic medicine community.

Results:
The provisional population genomic screening actionability framework includes 7 scored domains of actionability and 3 non-scored contextual domains. These domains are intended to allow population genomic screening programs to consider individual, family, health system, and population level implications of genomic screening, as well as the strength of evidence for select domains. The seven scoring domains of actionability are:

  1. Individual Impact of Genetic Conditions: individual-level morbidity and/or mortality caused by genetic condition.

  2. Population Impact of Genetic Condition: prevalence of the genetic condition.

  3. Likelihood of Disease Outcome: likelihood that the outcome(s) will manifest in an individual with the genetic condition based on its natural history.

  4. Opportunity to Mitigate Disease Outcome: extent to which the age of onset and natural history (including latency) of the genetic condition in the screened population and the standard outcome detection provides opportunity in time to intervene and reduce morbidity and/or mortality.

  5. Effectiveness of Management Prior to Clinical Recognition of Genetic Condition­: effectiveness of currently available clinical interventions to mitigate the impact of the outcome to improve morbidity and/or mortality, assuming ideal adherence.

  6. Burden of Management-Individual: degree of burden to an individual of management, including method of administration, intensity, side effects, and possible negative consequences related to management.

  7. Impact of Screening on Health Disparities: degree to which population screening for the gene and/or genetic condition is expected to impact disparities in health outcomes.


The three contextual domains are:


  1. Economic Impact- health systems and society: cost effectiveness of screening for a genetic condition on the healthcare system and society.

  2. Possible Negative Consequences Related to Screening for the Genetic Condition: the possible negative clinical and social implications of screening for the genetic condition.

  3. Access to Management: degree of equitable access to management services, including financial cost, variable insurance coverage, and geographic variability in access.




Conclusion:
 The creation of a Population Genomic Screening framework is expected to facilitate the use and understanding of actionability of this screening to clinicians, patients, and other healthcare decision-makers with the primary aim of aiding in decision-making regarding genes and conditions of inclusion for screening panels. The framework would allow interested parties to develop programs based on their system-specific objectives and introduces health equity and access domains, distinguishing this framework from others focused on actionability in other contexts. 

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