Genetic Counseling for Genetic Disorders

Overseen By Catherine A Brownstein, PhD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Boston Children's Hospital

Disqualifiers: Not member of Inspire.com, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to understand the barriers people face when accessing genetic medicine. It involves analyzing online discussions and testing whether access to a genetic counselor (a healthcare professional who provides information and support about genetic conditions) can help overcome these challenges. Participants are divided into two groups: one with access to a genetic counselor and another where members support each other. Ideal candidates are members of Inspire.com who have a genetic disease or a genetic predisposition to disease.

As an unphased trial, this study offers participants the opportunity to contribute to important research that could improve access to genetic medicine for many.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that access to a genetic counselor is safe?

Research has shown that genetic counseling is generally safe. It helps patients understand genetic information and make informed choices. However, problems can arise if trained genetic counselors do not conduct the counseling. A qualified professional is crucial to prevent misunderstandings or errors. The role of genetic counselors has grown significantly, reflecting trust in their ability to help. Overall, genetic counseling is well-tolerated and offers valuable support without known safety risks. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores innovative ways to provide support for individuals with genetic disorders. Unlike traditional approaches, where patients might have limited access to information, this trial offers two distinct methods: a Virtual Peer-to-Peer Discussion Board and a Virtual Advisory Board with access to genetic counselors. The peer-to-peer platform empowers participants to share experiences and knowledge, fostering a supportive community. Meanwhile, the advisory board provides direct access to expert genetic counselors, offering personalized guidance and answers to specific questions. This dual approach aims to enhance understanding and accessibility of genetic medicine, potentially transforming how patients engage with their healthcare.

What evidence suggests that access to a genetic counselor is effective for addressing barriers to genetic medicine?

Research has shown that genetic counseling greatly helps patients understand their health risks. Studies indicate that genetic counselors reduce the need for unnecessary tests and improve patient outcomes. Patients gain more knowledge, feel less worried, and better understand their health risks. Genetic counseling also empowers patients and enhances their overall healthcare experience. In this trial, participants in the Virtual Advisory Board arm will access a genetic counselor to answer questions about accessing genetic medicine, potentially providing more efficient and effective care. ^{4 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is for members of Inspire.com who either have a genetic disorder or are predisposed to one. It aims to understand and address the challenges they face in accessing genetic medicine.

Inclusion Criteria

I have a genetic disease.

I have a genetic risk for my condition.

Member of Inspire.com

Exclusion Criteria

I do not have a genetic disease.

I do not have a genetic predisposition to my condition.

Not member of Inspire.com

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Intervention

Participants join one of two Virtual Discussion Boards for three months. The Virtual Advisory Board includes a genetic counselor answering questions weekly, while the Virtual Peer-to-Peer Board involves participants answering each other's questions.

12 weeks

Weekly online interactions

Follow-up

Participants are monitored for self-reported outcomes related to accessing genetic medicine and overcoming barriers.

6 months

What Are the Treatments Tested in This Trial?

Interventions

• Access to Genetic Counselor

Trial Overview The study is testing if providing online access to a genetic counselor helps overcome barriers compared with those who only use peer-to-peer support without professional guidance.

How Is the Trial Designed?

Group I: Virtual Advisory Board Experimental Treatment 1 Intervention

Participants have access to a genetic counselor to answer their questions on accessing genetic medicine.

Group II: Virtual Peer-to-Peer Discussion Board Active Control 1 Intervention

Participants answer each others' questions on the topic of accessing genetic medicine.

Who Is Running the Clinical Trial?

Boston Children's Hospital

Lead Sponsor

Trials

801

Recruited

5,584,000+

National Human Genome Research Institute (NHGRI)

Collaborator

Trials

273

Recruited

299,000+

Published Research Related to This Trial

Genetic counselors prioritize meeting clients' needs through education and psychosocial support, while clients often enter sessions without clear expectations, leading to a positive surprise when counseling occurs.

Both clients and counselors agree that successful genetic counseling is marked by strong interpersonal connections, with clients valuing the time spent and the clear, comprehensive information provided, which enhances communication with family members.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Bernhardt, BA., Biesecker, BB., Mastromarino, CL.[2019]

The National Society of Genetic Counselors (NSGC) has defined genetic counseling as a comprehensive process that helps individuals understand and adapt to the implications of genetic factors in diseases, focusing on medical, psychological, and familial aspects.

This definition emphasizes the importance of interpreting family and medical histories, educating patients about genetics, and providing counseling to support informed decision-making and adaptation to genetic risks.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. Resta, R., Biesecker, BB., Bennett, RL., et al.[2022]

The National Society of Genetic Counselors (NSGC) has developed 23 consensus standards for reporting genetic counseling interventions to enhance the rigor and clarity of research in this field.

Adopting these Genetic Counseling Intervention Reporting Standards (GCIRS) is recommended for authors and journals to improve the quality and applicability of genetic counseling studies in practice.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report. Hooker, GW., Babu, D., Myers, MF., et al.[2018]

Genetic counselors in Minnesota reported 37 incidents where patients experienced negative outcomes due to genetics services provided by non-genetics providers, highlighting issues like psychosocial effects and medical mismanagement.

To prevent these negative outcomes, counselors suggested strategies such as educational outreach for healthcare providers, standardized testing processes, and better reporting mechanisms for adverse events.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Bensend, TA., Veach, PM., Niendorf, KB.[2022]

A clinical trial involving 988 women at risk for BRCA1/2 mutations found that telephone counseling resulted in a lower uptake of genetic testing (21.8%) compared to in-person counseling (31.8%), indicating a 10.2% difference in favor of in-person methods.

Despite the lower testing uptake, telephone counseling was deemed noninferior in terms of psychosocial outcomes, effectively minimizing adverse psychological reactions and supporting informed decision-making, making it a safe alternative for women in both rural and urban settings.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. Kinney, AY., Butler, KM., Schwartz, MD., et al.[2022]

A survey of 28 genetic service providers revealed that most referrals for cancer genetic counseling come from healthcare providers rather than patients themselves, highlighting a need for better awareness and education about genetic counseling services.

Key barriers to patient referrals identified include viewing risk evaluation as a low priority (72%), concerns about insurance implications (52%), and logistical issues like distance to appointments (48%), indicating areas where interventions could improve access to genetic counseling.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Barriers in identification and referral to genetic counseling for familial cancer risk: the perspective of genetic service providers. Rolnick, SJ., Rahm, AK., Jackson, JM., et al.[2021]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7050579/

Genetic Counseling and the Central Tenets of Practice - PMC As such, the outcomes of genetic counseling include its clinical utility in addition to personal utility in whether it helped to better understand health risks ...

2. sciencedirect.com sciencedirect.com/science/article/pii/S1098360025000012

The impact of genetic counselor involvement in ... These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts.

3. gimjournal.org gimjournal.org/article/S1098-3600(23)00996-6/fulltext

Systematic evidence review and meta-analysis of ... For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not ...

4. amjmed.com amjmed.com/article/S0002-9343(23)00548-X/fulltext

Advancing the Quintuple Aim for Health Care Improvement ... Genetic counseling has been shown to positively impact many patient outcomes, including increases in patient knowledge, empowerment, self- ...

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12066013/

The case for integrating genetic counselors into primary care GCs in primary care can streamline referrals, manage routine genetic concerns, and provide genetic continuity of care across the patient's ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7451018/

A Systematic Review of the Impact of Genetic Counseling on ... The results suggest that genetic counseling may have a positive impact on risk perception accuracy, though some studies observed no impact at all.

7. nsgc.org nsgc.org/Portals/0/Executive%20Summary%202021%20FINAL%2005-03-21.pdf

Executive Summary The genetic counseling profession has grown by over 100% in the last ten years and is expected to grow another 100% over the next ten years.

8. bls.gov bls.gov/ooh/healthcare/genetic-counselors.htm

Genetic Counselors : Occupational Outlook Handbook Genetic counselors assess clients' risk for a variety of inherited conditions, such as birth defects. They review genetic test results with individuals and ...

9. withpower.com withpower.com/trial/phase-genetic-diseases-inborn-9-2021-cc4b6

Genetic Counseling for Genetic Disorders Genetic counseling is generally considered safe for humans, but there can be negative outcomes if services are provided by non-genetics professionals, such as ...