Genetic Counseling for Inherited Disorders

Overseen By Elena Fisher

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: University of Minnesota

Disqualifiers: Unable to provide consent, others

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

Compensation: Varies

Number of Visits: 1

994 Participants Needed

Trial Summary

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It seems unlikely that you would need to stop, as the study focuses on genetic counseling rather than medication use.

What data supports the effectiveness of the treatment GC-PRO Intervention for Genetic Counseling for Inherited Disorders?

Research shows that genetic counseling can significantly improve patient outcomes, as seen in increased scores on the Genetic Counseling Outcome Scale (GCOS) after counseling sessions. Additionally, concise summary letters provided after counseling sessions are rated more positively by parents, suggesting that clear communication enhances emotional well-being and understanding. ^{1 2 3 4 5}

Is genetic counseling generally safe for humans?

Genetic counseling is generally considered safe, but there have been reports of negative outcomes when services are provided by non-genetics professionals, such as emotional distress or errors in testing. Ensuring that counseling is done by qualified professionals can help prevent these issues. ^{2 6 7 8 9}

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

Genetic counseling is unique because it focuses on helping individuals understand and adapt to the genetic aspects of their condition, rather than directly treating the disorder itself. It involves interpreting family and medical histories, educating about inheritance and testing, and supporting informed decision-making, which is different from traditional medical treatments that typically involve medication or surgery. ^{1 2 6 10 11}

What is the purpose of this trial?

The goal of the GC-PRO study is to try to make genetic counseling better for people of all backgrounds. We are asking participants to complete two surveys and to allow audio recording of their genetic counseling visit. The purpose of the study is to understand whether trying different ways of doing genetic counseling will lead to better experiences for patients. The research team is also working with partners from the Somali, Latino/Hispanic, Black/African American, and Hmong communities to make sure the research is being done in a way that will benefit underserved communities.

Research Team

Heather Zierhut

Principal Investigator

University of Minnesota

Eligibility Criteria

The GC-PRO study is for adults 18 or older who, or whose child, have been referred for genetic counseling due to a family/personal history of hereditary cancer, heart issues, general genetic conditions, or reproductive concerns. Participants must understand English to complete forms and surveys.

Inclusion Criteria

I or my child have been referred for genetic counseling due to a family history of hereditary conditions.

Understand and be able to provide information for study forms and surveys in English.

Exclusion Criteria

I am unable to understand and give consent for treatment.

For pediatric genetic counseling referrals, individuals who are not the parent or legal guardian of the child will be excluded from participating.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Counseling Intervention

Participants receive genetic counseling and complete two surveys, with audio recording of the session

1 month

1 visit (in-person)

Follow-up

Participants are monitored for outcomes such as patient empowerment, activation, and perception of genetic counseling quality

1 month

Treatment Details

Interventions

• GC-PRO Intervention

Trial Overview This trial aims to improve genetic counseling experiences by comparing different approaches over several months (4-15). Participants will fill out two surveys and have their counseling sessions recorded. The study focuses on inclusivity across diverse communities.

Participant Groups

Group I: Cluster 6 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 14-15

Group II: Cluster 5 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 12-15

Group III: Cluster 4 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 10-15

Group IV: Cluster 3 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 8-15

Group V: Cluster 2 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 6-15

Group VI: Cluster 1 Experimental Treatment 1 Intervention

Patients recruited and randomized to transfer from standard of care to genetic counselling in months 4-15

Who Is Running the Clinical Trial?

University of Minnesota

Lead Sponsor

Trials

1,459

Recruited

1,623,000+

University of South Florida

Collaborator

Trials

433

Recruited

198,000+

Findings from Research

Genetic counseling (GC) is a vital communication process that addresses the human issues arising from genetic diseases, emphasizing the need for health professionals to understand and manage the psychological impacts on families.

The review highlights a gap in current practices, where technical aspects of genetics overshadow the emotional and adaptive responses of families, suggesting a need for more humanized care and non-directive psychological techniques in GC.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic counseling. Pina-Neto, JM.[2020]

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 study of 307 patients at a psychiatric genetic counseling clinic found that genetic counseling significantly improved patient outcomes, as indicated by a large increase in Genetic Counseling Outcome Scale (GCOS) scores after sessions.

The effectiveness of genetic counseling was influenced by factors such as the mode of delivery (in-person, telephone, or telehealth) and the primary reason for the appointment, with those starting with lower GCOS scores showing the most benefit, suggesting potential for targeted referrals based on initial scores.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling. Gerrard, S., Inglis, A., Morris, E., 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]

A concise genetic counseling summary letter (1.5 pages) was rated more positively by parents compared to a longer narrative format (4-5 pages), particularly in terms of emotional response, indicating it may help reduce anxiety and improve coping after a new diagnosis.

Parents with diverse educational backgrounds found the shorter letter format more accessible and useful, suggesting that genetic counselors should consider using simplified communication strategies to enhance understanding and emotional support.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The Long and Short of Genetic Counseling Summary Letters: A Case-control Study. Roggenbuck, J., Temme, R., Pond, D., et al.[2018]

Pre-test genetic counseling significantly reduced worry and increased knowledge about genetic risks, but it did not have a notable impact on anxiety, depression, or the intent to pursue genetic testing, based on a systematic review of 25 studies.

The evidence regarding the overall effectiveness of genetic counseling in improving health outcomes, such as cancer prevention behaviors and accurate risk assessment, is of very low quality, indicating a need for further research to establish its true impact.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling. Culver, JO., Bertsch, NL., Kurz, RN., et al.[2023]

The introduction of a Genetic Counselor (GC)-mandate policy did not lead to an increase in the completion of genetic testing for cancer susceptibility genes (BRCA1 and BRCA2) or in the identification of mutations, indicating that the policy may not enhance patient outcomes.

Low-income individuals faced greater barriers to completing genetic testing, often due to insurance issues and time constraints, suggesting that the GC-mandate policy may inadvertently limit access to testing for those at higher risk.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Impact of a genetic counseling requirement prior to genetic testing. Stenehjem, DD., Au, T., Sainski, AM., et al.[2019]

The Genomics Outcome Scale (GOS), a shorter version of the Genetic Counseling Outcome Scale (GCOS-24), effectively measures patient empowerment in genetic counseling, showing significant improvements in scores after clinic attendance among 138 respondents.

The GOS demonstrated good sensitivity to change with a medium-to-large effect size (Cohen's d = 0.73), indicating that genetic counseling services provide measurable benefits to patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Assessing sensitivity to change of the genomics outcome scale (GOS). Ting, MSO., Clarke, A., McAllister, M.[2022]

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]

Genetic counseling is a comprehensive process that supports individuals from the initial referral through diagnosis and treatment options, ensuring they understand their genetic information and its implications.

The goal of genetic counseling is to empower individuals to make informed decisions about their health and reproductive choices by providing clear communication and support throughout the process.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic counseling. Herrmann, J., Opitz, JM.[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]

References

1. Brazil pubmed.ncbi.nlm.nih.gov

Genetic counseling. [2020]

2. 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]

3. England pubmed.ncbi.nlm.nih.gov

Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling. [2021]

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

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

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

The Long and Short of Genetic Counseling Summary Letters: A Case-control Study. [2018]

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

Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling. [2023]

7. England pubmed.ncbi.nlm.nih.gov

Impact of a genetic counseling requirement prior to genetic testing. [2019]

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

Assessing sensitivity to change of the genomics outcome scale (GOS). [2022]

9. 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]

10. England pubmed.ncbi.nlm.nih.gov

Genetic counseling. [2019]

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

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