Genetic Counseling for Thyroid Cancer

Overseen By Sarah Hunt, MPH

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Dana-Farber Cancer Institute

Disqualifiers: Unable to give consent, others

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

Compensation: Varies

Number of Visits: 3

250 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to identify genetic factors that might increase the risk of thyroid cancer, particularly in children and families with a history of related cancers. Researchers collect family and medical history, along with a blood or saliva sample, to study genetic links. Participants may consult a genetic counselor, a healthcare professional specializing in genetics, to explore these risks further. Suitable candidates include those with a history of thyroid cancer or nodules, or those from families suspected of having hereditary thyroid cancer. As an unphased study, this trial allows participants to contribute to important genetic research that could benefit future generations.

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 prior data suggests that genetic counseling is safe for individuals with suspected familial thyroid cancer predisposition?

Research has shown that genetic counseling for thyroid cancer is generally safe when conducted by trained professionals. It helps individuals understand their cancer risk and its implications for their family. Studies have found that genetic counseling does not cause negative emotional effects and can enhance understanding of the condition. Experts should perform the counseling to prevent any possible negative outcomes. Overall, genetic counseling is a well-tolerated process with significant benefits for those at risk of thyroid cancer. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about genetic counseling for thyroid cancer because it offers a personalized approach to understanding hereditary risk. Unlike standard treatments that focus on managing the cancer itself, this method aims to identify individuals with a higher familial predisposition to thyroid cancer. By analyzing family and medical history along with genetic testing, it provides targeted referrals to genetic counselors, potentially leading to early interventions and more tailored healthcare decisions for those at risk. This proactive strategy could significantly enhance early detection and preventative care for individuals with a genetic predisposition.

What evidence suggests that genetic counseling is effective for thyroid cancer?

Research has shown that genetic counseling can be very helpful for people at risk of cancer. Although specific data for thyroid cancer is lacking, studies on other types, such as breast cancer, indicate that genetic counseling helps people understand their cancer risks. In this trial, participants with a higher suspected familial predisposition will receive a referral to a genetic counselor. This process helps patients learn about their genetic test results and what these mean for them and their families, guiding decisions about monitoring and treatment. Counseling also provides emotional support by helping families understand and cope with their cancer risk. ^{1 2 4 6 7}

Who Is on the Research Team?

Junne Kamihara, MD, PhD

Principal Investigator

Dana-Farber Cancer Institute

Are You a Good Fit for This Trial?

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.

Timeline for a Trial Participant

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)

What Are the Treatments Tested in This Trial?

Interventions

• Referral to Genetic Counselor

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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]

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]

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]

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 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]

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]

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]

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]

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]

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]

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]

Citations

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Cancer Genetic Counseling—Current Practice and Future ... This review provides an overview of the current and evolving practice of cancer genetic counseling as well as opportunities and challenges for a wide variety ...

2. withpower.com withpower.com/trial/phase-thyroid-diseases-2-2016-3c385

Genetic Counseling 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 ...

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC3303219/

Real world experience with cancer genetic counseling via ... This innovative pilot project explores the acceptability and outcomes of telephone genetic counseling for hereditary cancer.

4. cancer.gov cancer.gov/publications/pdq/information-summaries/genetics/risk-assessment-hp-pdq

Cancer Genetics Risk Assessment and Counseling (PDQ®) Posttest genetic counseling helps patients understand their test results, including the medical implications for themselves and their relatives.

5. cureus.com cureus.com/articles/207780-genetic-testing-for-successful-cancer-treatment

Genetic Testing for Successful Cancer Treatment Established genetic counseling and testing protocols are pivotal in evaluating and addressing cancer risk, with a primary focus on effective ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC2360013/

Estimating the referral rate for cancer genetic assessment ... Genetic counselling for familial cancer is associated with an improvement in knowledge but does not have an adverse effect on affective outcomes. This model ...

7. targetedonc.com targetedonc.com/view/urging-families-with-thyroid-cancer-to-seek-genetic-testing

Urging Families With Thyroid Cancer to Seek Genetic Testing All individuals with this type of thyroid cancer should be referred for genetic counseling and offered genetic testing. ... Thyroid Cancer Prevention & Detection.