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

70 Participants Needed

Trial Summary

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 data supports the effectiveness of the treatment Access to Genetic Counselor for genetic disorders?

Research shows that genetic counseling, which includes discussions about insurance and financial topics, helps patients make informed decisions about genetic testing. Additionally, genetic counseling improves communication with family members and provides ongoing support, which are important outcomes for patients dealing with genetic disorders. ^{1 2 3 4 5}

Is genetic counseling safe for humans?

Genetic counseling is generally considered safe for humans, but there can be negative outcomes if services are provided by non-genetics professionals, such as emotional distress or errors in genetic testing. Ensuring that genetic counseling is conducted by trained professionals can help prevent these issues. ^{6 7 8 9 10}

How is genetic counseling different from other treatments for genetic disorders?

Genetic counseling is unique because it focuses on helping individuals understand and adapt to the medical, psychological, and familial implications of genetic disorders, rather than directly treating the condition. It involves education about inheritance, testing, and management, and promotes informed choices, which is different from traditional medical treatments that typically involve medication or surgery. ^{11 12 13 14 15}

What is the purpose of this trial?

To learn about patient barriers to accessing genetic medicine, we will analyze anonymous posts from a membership-based online community \[Inspire.com\], and investigate how these barriers differ for various populations. We will then test whether these barriers can be addressed by providing online access to a genetic counselor to answer patient questions for one group of patients (virtual advisory board group) and compare to that of a control group who does not have access to a genetic counselor (virtual peer-to-peer board group).

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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]

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]

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]

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]

References

1. United States pubmed.ncbi.nlm.nih.gov

Barriers in identification and referral to genetic counseling for familial cancer risk: the perspective of genetic service providers. [2021]

2. United States pubmed.ncbi.nlm.nih.gov

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics. [2019]

3. United States pubmed.ncbi.nlm.nih.gov

Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. [2019]

4. United States pubmed.ncbi.nlm.nih.gov

Comparison of genetic testing documentation between genetic counselors and non-genetic counselors. [2023]

5. United States pubmed.ncbi.nlm.nih.gov

Medical management adherence as an outcome of genetic counseling in a pediatric setting. [2022]

6. United States pubmed.ncbi.nlm.nih.gov

What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. [2022]

7. United States pubmed.ncbi.nlm.nih.gov

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report. [2018]

8. United States pubmed.ncbi.nlm.nih.gov

International genetic counseling: What do genetic counselors actually do? [2023]

9. United States pubmed.ncbi.nlm.nih.gov

Genetic counseling service delivery models: A study of genetic counselors' interests, needs, and barriers to implementation. [2021]

10. United States pubmed.ncbi.nlm.nih.gov

Rapid acute care genomics: Challenges and opportunities for genetic counselors. [2022]

11. United States pubmed.ncbi.nlm.nih.gov

Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. [2022]

12. United States pubmed.ncbi.nlm.nih.gov

Genetic counseling and testing: implications for clinical practice. [2009]

13. United States pubmed.ncbi.nlm.nih.gov

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. [2022]

14. United States pubmed.ncbi.nlm.nih.gov

Scaling Genetic Counseling in the Genomics Era. [2021]

15. United States pubmed.ncbi.nlm.nih.gov

Genetic Counseling in Pediatrics. [2018]