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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Familial communication and cascade testing following elective genomic testing.

Sophia M Adelson^1,2,3, Carrie L Blout Zawatsky^1,2, Madison R Hickingbotham⁴

¹Brigham and Women's Hospital, Boston, Massachusetts, USA.

Journal of Genetic Counseling

|May 17, 2024

Summary

Elective genomic screening results are frequently shared with family members. Medically actionable predispositions, especially monogenic risks, strongly motivate cascade genetic testing (CGT) among relatives, though opportunities for further testing remain.

Keywords:

cascade testing elective genomic testing familial communication familial impact genetic counseling primary healthcare

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Area of Science:

Genomics
Clinical Genetics
Public Health

Background:

Familial communication of genetic results and cascade genetic testing (CGT) extend screening benefits to at-risk relatives.
Elective genetic screening is increasingly offered, but data on result sharing and CGT uptake are limited.

Purpose of the Study:

To analyze familial sharing of results and CGT uptake following elective genomic screening.
To identify factors influencing CGT in relatives of patients receiving actionable genetic predispositions.

Main Methods:

Analysis of patient-reported data from the Sanford Health system (2018-2022) for the elective Sanford Chip genomic test.
Inclusion of adult primary care patients with results available for at least one year.
Comparison of result disclosure and CGT rates between patients with medically actionable predispositions and uninformative findings.

Main Results:

Patients with medically actionable predispositions reported disclosing results to family members significantly more often (94.6%) than those with uninformative findings (46.7%).
Among patients with actionable predispositions, 52.2% with monogenic disease risk and 12.1% with carrier status reported relatives undergoing CGT.
A substantial proportion of at-risk relatives did not undergo CGT, indicating potential for future interventions.

Conclusions:

Identification of monogenic risk via elective genomic testing effectively motivates CGT in many at-risk relatives.
Opportunities exist to increase CGT uptake through enhanced genetic counseling and resource development.
Further efforts are needed to ensure all at-risk relatives benefit from genetic screening findings.