At-home genetic testing in pediatrics

Area of Science:

• Pediatric Genetics
• Consumer Genetic Testing
• Bioethics

Background:

• At-home genetic testing, including direct-to-consumer (DTC) and consumer-directed (CDGT) options, is increasingly accessible.
• Laboratories are expanding offerings for pediatric populations, including newborns and children.
• These tests provide insights into ancestral origins, supplement newborn screening, and identify risks for various health conditions.

Purpose of the Study:

• To review the current landscape of at-home genetic testing for children.
• To highlight unique considerations and challenges associated with pediatric genetic testing.
• To offer guidance for healthcare providers managing parental inquiries and test results.

Main Methods:

• Literature review of studies on at-home genetic testing in pediatric populations.
• Analysis of available at-home genetic tests targeting children.
• Examination of ethical, legal, and social implications (ELSI).

Main Results:

• At-home tests for children encompass ancestry, newborn screening supplementation, disease risk prediction, and pharmacogenomic information.
• Unique challenges include parental motivations, data privacy, result interpretation complexities, and potential impacts on family dynamics.
• Ethical, legal, and social implications require careful consideration.

Conclusions:

• Pediatricians and healthcare providers need to be informed about the nuances of at-home genetic testing in children.
• Guidance is necessary for navigating inquiries, interpreting results, and addressing the multifaceted implications of these tests.
• Informed decision-making by families and providers is crucial for responsible utilization.