Exploring the impact of genomic sequencing on understanding cancer risks
Genomic Services Research Program
This study is testing how genomic sequencing can help people with rare diseases understand their cancer risks and whether they take action based on the results.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Month to 105 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT02595957 on ClinicalTrials.gov |
What this trial studies
This observational program investigates the implications of genomic and exome sequencing, particularly focusing on the return of medically actionable secondary findings (SF) to individuals with rare diseases. The study aims to understand how recipients of SF comprehend these results, communicate them to healthcare providers and family members, and whether they take recommended health-preserving actions. By conducting interviews and surveys, researchers will assess the clinical utility of returning SF and explore the penetrance of disorders associated with SF genes. The program also includes a pilot initiative for selected participants to undergo detailed phenotyping at the NIH.
Who should consider this trial
Good fit: Ideal candidates include English- or Spanish-speaking individuals who have received secondary findings from genomic sequencing.
Not a fit: Patients who do not speak English or Spanish, or those who are not recipients of secondary findings may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of genetic risks and improve patient management for individuals with cancer predispositions.
How similar studies have performed: Previous studies have shown promise in understanding the implications of genomic findings, suggesting this approach is informed by prior successful initiatives.
Eligibility criteria
Show full inclusion / exclusion criteria
* ELIGIBILITY CRITERIA: We employ a referral form through SurveyMonkey to receive referrals from recruitment partners or self-referrals. This serves as an intake form and self-reported eligibility review. This form asks for contact information, key information about the prospective participant s SF, and subjective understanding of their result. If we conclude, based on a review of the SF and available personal and/or family history, that the pathogenicity of the SF is not at least likely pathogenic, that participant may be eligible for the survey, interview, and/or re-contact for future follow-up, but will not complete any other protocol procedures (such as cascade testing). If a participant is consented and information arises during the social and behavioral study procedures that lead study staff to believe the genetic result does not qualify as an SF, the participant will be considered a screen failure and will not continue with study procedures. We plan to offer enrollment in this protocol to English- or Spanish-speaking recipients of SF. We do not have trained staff who can conduct the interviews in languages other than English and Spanish. If a caregiver of a minor or adult who is unable to consent is enrolled as an index participant to complete the survey and interview on behalf of the SF recipient, they may also be eligible for cascade testing to relate presence of an SF-related phenotype in a family member with presence or absence of SF genotype. -We may enroll a child in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease (e.g., Wilson disease and familial hypercholesterolemia have childhood onset). We will not enroll neonates (less than one month old). * We may enroll adults who are unable to consent (i.e., an individual who is impaired at the time of consent) in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease. * We may enroll women who are pregnant in this protocol and women who become pregnant during the study can continue their participation. We will not perform prenatal genetic testing. * NIH staff members are not prohibited from enrollment if they meet the study s eligibility criteria. The study team will make every effort to protect the confidentiality of the NIH staff member s health information, to minimize any pressure on or discomfort of the NIH staff member and provide a copy of the NIH Frequently Asked Questions (FAQs) for Staff Who are Considering Participation in NIH Research , before consent is obtained.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Leslie G Biesecker, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Julie C Sapp
- Email: sappj@mail.nih.gov
- Phone: (301) 435-2832
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.