Genetic Counseling for Thyroid Cancer

Overseen by Junne Kamihara, MD, PhD

Age: Any Age

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Academic

Recruiting

Sponsor: Dana-Farber Cancer Institute

Disqualifiers: Unable to give consent, others

No Placebo Group

Trial Summary

What is the purpose of this trial?

Thyroid cancers can occur sporadically, but can also be found as tumors that cluster in families with other cancers or genetic syndromes. Researchers are studying thyroid cancer in children and families, with a particular interest in understanding genes and other factors that may put individuals at risk for developing thyroid cancer and thyroid nodules. * In this study, family and medical history information is collected alongside a blood or saliva sample for genetic studies. * Individuals with a past or present childhood thyroid cancer/nodule or a thyroid cancer suspected to be inherited in their family are invited to participate.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the study team or your doctor.

What data supports the effectiveness of the treatment Referral to Genetic Counselor for thyroid cancer?

While there is no direct data on the effectiveness of genetic counseling for thyroid cancer, studies on breast cancer show that genetic counseling is increasingly used and can help identify individuals at high familial risk. This suggests that genetic counseling may be beneficial in managing familial cancer risks, including thyroid cancer. ^{1 2 3 4 5}

Is genetic counseling for thyroid cancer safe?

Genetic counseling is generally safe, but there can be negative outcomes if not done by trained professionals, such as emotional distress or incorrect information. Ensuring that genetic counseling is provided by qualified experts can help prevent these issues. ^{6 7 8 9 10}

How is genetic counseling for thyroid cancer different from other treatments?

Genetic counseling for thyroid cancer is unique because it focuses on understanding the hereditary nature of the disease and involves assessing family history and genetic testing, rather than directly treating the cancer itself. This approach helps identify individuals at risk and guides personalized prevention and management strategies, which is different from traditional treatments that focus on directly targeting the cancer. ^{11 12 13 14 15}

Research Team

Junne Kamihara, MD, PhD

Principal Investigator

Dana-Farber Cancer Institute

Eligibility Criteria

This trial is for children and adults with current or past thyroid cancer or nodules, especially if there's a strong suspicion that the condition might be inherited. It includes those from families where multiple members had thyroid cancer, associated genetic syndromes, or various cancers at a young age.

Inclusion Criteria

I am a child with current or past thyroid cancer or nodules.

My family has a history of thyroid cancer, including cases in childhood or alongside genetic syndromes.

I have or might have thyroid cancer, or nodules, with a family history of cancer.

Exclusion Criteria

Individuals who are unable to complete study materials

I am able to understand and agree to the study's procedures and risks.

Trial Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

1 visit (in-person)

Specimen Testing and Analysis

DNA sequencing and genetic studies are performed to identify gene alterations

8-12 weeks

1 visit (in-person), ongoing analysis

Follow-up

Participants are monitored for safety and effectiveness after genetic analysis

4 weeks

1 visit (virtual)

Treatment Details

Interventions

• Referral to Genetic Counselor (Genetic)

Trial Overview The study involves collecting family and medical history information along with blood or saliva samples to understand genetic factors contributing to thyroid cancer risk. Participants may also be referred to a genetic counselor if needed.

Participant Groups

Group I: Higher Suspected Familial Predisposition Experimental Treatment 1 Intervention

Higher Suspected Familial Predisposition Screening and Enrollment: Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history. - Specimen Testing and Analysis •Referral to Genetic Counselor, if indicated

Group II: Lower Suspected Familial Predisposition Active Control 1 Intervention

Lower Suspected Familial Predisposition Screening and Enrollment: Consent, Family HX, Medical HX, Blood/Saliva which will categorize by suspected hereditary predisposition: Based on family and medical history. - Sample stored in Biorepository

Who Is Running the Clinical Trial?

Dana-Farber Cancer Institute

Lead Sponsor

Trials

1,128

Recruited

382,000+

Dr. Benjamin L. Ebert

Dana-Farber Cancer Institute

Chief Executive Officer

MD from Harvard Medical School, PhD from Oxford University

Dr. Craig A. Bunnell

Dana-Farber Cancer Institute

Chief Medical Officer since 2012

MD from Harvard Medical School, MPH from Harvard School of Public Health, MBA from MIT Sloan School of Management

Findings from Research

A study of 406 patients seeking cancer genetic counseling revealed that many initiated their own referrals, despite being eligible for genetic testing, indicating a gap in the referral process.

The demographic profile of counselees showed a higher educational level and fewer immigrants compared to the general population, suggesting that current referral practices may not adequately reach all eligible patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral. van Riel, E., van Dulmen, S., Ausems, MG.[2021]

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]

This study surveyed 132 genetic counselors in the U.S. and Canada, revealing that many work in inpatient settings across various specialties, including pediatrics and oncology, but often without formal training for their roles.

The findings highlight a significant gap in training for genetic counselors in inpatient care, with 50% having no exposure during their graduate education, suggesting a need for improved training programs as the demand for genetic expertise in hospitals increases.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Characterization of genetic counselor practices in inpatient care settings. Magness, E., Magoulas, P., Moscarello, T., et al.[2021]

Only 11.2% of breast cancer patients with familial risk received genetic counseling, but this increased to 25.1% among those at high familial risk, indicating a need for improved access and awareness.

Patients who underwent genetic counseling had a borderline increased risk of developing contralateral breast cancer, particularly among BRCA1/BRCA2 mutation carriers, suggesting that genetic counseling may identify individuals at higher risk for further cancer development.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. Ayme, A., Viassolo, V., Rapiti, E., et al.[2014]

The study evaluated the effectiveness of an interactive computer program designed to educate women about breast cancer and genetic testing, finding that it can significantly shorten counseling sessions for low-risk individuals while maintaining high effectiveness ratings from both clients and counselors.

Using the computer program before counseling allows counselors to focus more on personal risk and decision-making, making it a valuable tool to enhance the efficiency of genetic counseling as demand for these services grows.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. Green, MJ., Peterson, SK., Baker, MW., et al.[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]

In a study of 530 patients with Graves' disease, thyroid cancer was found in 31 out of 94 patients who underwent total thyroidectomy, indicating a higher prevalence of cancer than previously reported in other studies.

The research suggests that surgery may be a more effective first-line treatment for Graves' disease, especially in patients who have experienced major adverse events from anti-thyroid drugs, as half of those patients had thyroid cancer.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Investigation on the prevalence of thyroid cancer in Graves' patients in northeastern part of Turkey: is surgery a better option for patients with Graves' disease who develop antithyroid drug-related major adverse events? Dayanan, R., Bilen, A., Demirci, T., et al.[2022]

A significant number of thyroid cancer survivors (40.9%) reported that their treatment did not meet their expectations, largely due to inadequate understanding of their pretreatment plan, with 37.2% indicating they lacked sufficient information.

Patients who fully understood their treatment plans were five times more likely to feel that their treatment experience met expectations, highlighting the importance of effective counseling in improving patient satisfaction and quality of life.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Analysis of Unmet Information Needs Among Patients With Thyroid Cancer. Karcioglu, AS., Dhillon, VK., Davies, L., et al.[2023]

There is a growing demand for breast cancer risk assessment due to increased awareness of genetic factors, highlighting the need for effective communication methods for conveying complex genetic information to consumers and their families.

Research is needed to evaluate the psychosocial and behavioral outcomes of web- and telephone-based genetic services, especially regarding how to communicate risks to at-risk relatives, including minors, to ensure effective risk management and support for those affected.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Controversies in communication of genetic risk for hereditary breast cancer. Mackenzie, A., Patrick-Miller, L., Bradbury, AR.[2022]

A survey of 1,124 thyroid cancer survivors revealed that 37.44% did not fully understand their treatment plan, highlighting a significant gap in patient education and communication.

Younger patients reported more dissatisfaction with their treatment expectations and a need for better psychological support, while older patients were more concerned about unexpected effects on speech and swallowing.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

What the thyroid cancer patient wants to know: ThyCa survey by the American Head and Neck Society Endocrine Surgery Section. Dhillon, VK., Silver Karcioglu, A., Bloom, G., et al.[2021]

Genetic counseling and testing are crucial for managing endocrine tumors, as they can lead to early diagnosis, better surgical decisions, and improved survival rates for patients.

Certified genetic counselors play a vital role in the endocrinology team by ensuring the right genetic tests are ordered, interpreting results, and providing support to patients and their families, which enhances the overall effectiveness of care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The growing role for genetic counseling in endocrinology. Matloff, ET., Barnett, RE.[2011]

A survey of reproductive endocrinologists revealed that 82% recommend genetic counseling for cancer patients considering fertility preservation, and 92% consult genetic counselors for preimplantation genetic diagnosis (PGD) related to hereditary cancer syndromes.

Genetic counselors can significantly assist REIs by helping with family history assessment and interpreting variants of uncertain significance (VOUS), as many REIs are not familiar with VOUS, highlighting the importance of collaboration in patient care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers. Goetsch, AL., Wicklund, C., Clayman, ML., et al.[2018]

Genetic counseling is important for families with multiple cancer cases, as it can help identify specific genetic conditions that may increase cancer risk, such as retinoblastoma or intestinal polyposis.

The study outlines six scenarios that warrant genetic counseling, including hereditary cancer syndromes and situations where cancer is part of a broader genetic disease, emphasizing the need for tailored approaches in counseling based on family history.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Genetic counseling in cancerology]. Le Marec, B., Le Gall, E., Journel, H., et al.[2016]

Patients with a family history of cancer may benefit from genetic counseling to assess their risk for hereditary cancer, highlighting the importance of understanding genetic factors in cancer prevention.

Nurse practitioners (NPs) can play a crucial role in identifying patients who need genetic counseling and can collaborate effectively with genetics providers to ensure comprehensive care.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic counseling for hereditary cancer: A primer for NPs. McReynolds, K., Lewis, S.[2019]

Breast surgeons are increasingly collaborating with genetics professionals, such as medical geneticists and genetic counselors, to enhance cancer care through genetic risk assessment and counseling.

Surgeons play a vital role in identifying patients at increased genetic risk, making appropriate referrals for genetic counseling and testing, and managing high-risk families, which is essential for effective cancer genetics programs.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetics and the multidisciplinary breast center. Peters, JA., Rubinstein, WS.[2009]

References

1. Germany pubmed.ncbi.nlm.nih.gov

Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral. [2021]

2. 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]

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

Characterization of genetic counselor practices in inpatient care settings. [2021]

4. Netherlands pubmed.ncbi.nlm.nih.gov

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. [2014]

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

Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. [2019]

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. Italy pubmed.ncbi.nlm.nih.gov

Investigation on the prevalence of thyroid cancer in Graves' patients in northeastern part of Turkey: is surgery a better option for patients with Graves' disease who develop antithyroid drug-related major adverse events? [2022]

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

Analysis of Unmet Information Needs Among Patients With Thyroid Cancer. [2023]

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

Controversies in communication of genetic risk for hereditary breast cancer. [2022]

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

What the thyroid cancer patient wants to know: ThyCa survey by the American Head and Neck Society Endocrine Surgery Section. [2021]

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

The growing role for genetic counseling in endocrinology. [2011]

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

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers. [2018]

13. France pubmed.ncbi.nlm.nih.gov

[Genetic counseling in cancerology]. [2016]

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

Genetic counseling for hereditary cancer: A primer for NPs. [2019]

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

Genetics and the multidisciplinary breast center. [2009]