Serious genetic disorders: can or should they be defined?

Area of Science:

• Medical Genetics
• Bioethics
• Public Health Policy

Background:

• The term "serious" is used in genetic services laws but lacks a clear definition.
• Genetics professionals are key stakeholders for defining serious genetic conditions.

Purpose of the Study:

• To survey genetics professionals' views on defining serious genetic conditions.
• To assess consensus on criteria for classifying genetic disorders.

Main Methods:

• Anonymous mailed questionnaires were sent to genetics providers in the US, Europe, Canada, and Ibero-America.
• Respondents classified conditions as lethal, serious but not lethal, or not serious.
• Analysis included 1,264 patient-seeing genetics professionals.

Main Results:

• Respondents listed 537 conditions with significant overlap between categories (e.g., 46% of serious conditions also listed as not serious).
• Professionals opposed definitions by societies or governments, favoring patient-doctor decision-making.
• Views on using definitions to limit services differed between the US and other countries.

Conclusions:

• There is insufficient consensus among genetics professionals to define serious genetic conditions for legal or policy purposes.
• Perceptions of serious genetic disorders are influenced by social, economic, and individual factors.
• Definitions are challenging due to variable condition expression and evolving treatments.