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Population genomic screening: Ethical considerations to guide age at implementation.

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Panel testing for genetic diseases like FH, HBOC, and LS has optimal screening ages. Familial Hypercholesterolemia (FH) screening is best at 18, while Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS) are best after 26.

Keywords:
bundled genomic screeningimplementationpopulation screeningprinciplist ethicsutilitarian ethics

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Area of Science:

  • Genomic Medicine
  • Bioethics
  • Preventive Healthcare

Background:

  • Population-based genetic screening is shifting towards panel testing for multiple disease risks.
  • Current genomic screening often focuses on single disorders, with limited use of panel testing.
  • The optimal age for genetic panel testing, particularly concerning the age of majority (18) versus post-majority (26), remains underexplored.

Purpose of the Study:

  • To conduct an ethical analysis of the optimal age for implementing a narrow genetic panel test.
  • To evaluate screening ages for Familial Hypercholesterolemia (FH), Hereditary Breast and Ovarian Cancer (HBOC), and Lynch Syndrome (LS) within a panel testing framework.

Main Methods:

  • Utilized a utilitarian ethical analysis assuming health systems aim to maximize patient utility.
  • Incorporated a supplemental principlist-based approach to identify ethical concerns and trade-offs.
  • Analyzed clinical, non-clinical, and family planning implications of different screening ages.

Main Results:

  • Screening for FH at the age of majority (18) is preferred due to significant lifetime benefits from early statin intervention.
  • Screening for HBOC and LS after the age of majority (26) is favored due to established surveillance protocols starting at age 26 and prophylactic interventions.
  • Ethical considerations suggest a later deployment age for narrow panel testing.

Conclusions:

  • The optimal age for genetic panel testing varies by condition, with FH benefiting from earlier screening and HBOC/LS from later screening.
  • Implementing narrow panel testing after age 26 appears more advantageous when considering clinical and family planning factors.
  • Ethical frameworks support a nuanced approach to age-based genetic screening recommendations.