Genetic Counseling for Li-Fraumeni Syndrome

Overseen By Banu Arun

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: M.D. Anderson Cancer Center

Disqualifiers: Non-English speaking, Low TP53 suspicion, others

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

Compensation: Varies

Number of Visits: Unknown

500 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to understand why patients might choose to participate in a study comparing standard and personalized genetic counseling. Participants will complete a short questionnaire to share their thoughts. Ideal candidates for this trial have received genetic counseling for TP53 testing, which relates to a specific gene potentially linked to cancer risk. Participants must speak English and be involved in TP53 genetic testing.

As an unphased study, this trial offers participants the opportunity to contribute to valuable research that could enhance genetic counseling methods.

Do I have to stop taking my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It seems to focus on genetic counseling, so it's unlikely that medication changes are required.

What prior data suggests that genetic counseling is safe?

Research has shown that genetic counseling is safe for individuals. This counseling helps people understand their genetic risks for conditions like Li-Fraumeni syndrome, a rare inherited disorder that increases cancer risk. Studies indicate that genetic counseling involves no physical treatment or medication. It is a conversation with a genetic counselor who explains test results and aids in informed decision-making.

As a non-invasive process, genetic counseling carries no known risks or side effects. It focuses on providing information and support to those with a genetic predisposition to certain health conditions. Participants often feel more informed and prepared to make health decisions after counseling.

In this study, participants will complete a questionnaire, which poses no health risks. Overall, genetic counseling is well-tolerated and safe for participants. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores the impact of personalized genetic counseling compared to the standard approach. Standard genetic counseling typically provides general information based on common guidelines, but personalized counseling tailors advice to an individual's specific genetic profile, such as the presence of a TP53 mutation. This could potentially lead to more informed decision-making for patients, as they receive information that is directly relevant to their unique genetic makeup. By understanding the willingness of individuals to participate in such personalized counseling, the trial aims to uncover whether this approach can enhance patient engagement and outcomes.

What evidence suggests that genetic counseling is effective for Li-Fraumeni Syndrome?

Research has shown that genetic counseling can greatly assist families dealing with Li-Fraumeni syndrome (LFS), a condition caused by changes in the TP53 gene. Studies have found that genetic counseling helps individuals understand their risk for various cancers and make informed health decisions. This trial will have participants complete questionnaires to assess the impact of genetic counseling. The counseling involves examining family history, understanding emotional impacts, and learning about inherited cancer. This is crucial because individuals with LFS face a higher risk of developing multiple cancers, and knowing this risk can guide significant health choices. Overall, genetic counseling provides valuable support and information to help manage these risks. ^{4 6 7 8 9}

Who Is on the Research Team?

Banu Arun

Principal Investigator

M.D. Anderson Cancer Center

Are You a Good Fit for This Trial?

Inclusion Criteria

Individuals age 15 or older OR parent/guardian of a patient younger than 15 years (if age 15-17, the patient will provide assent and parent/guardian will provide consent)

English fluency

Receive genetic counseling specifically for TP53 genetic testing and who consent to undergo TP53 genetic testing OR individuals whose genetic testing indicates a TP53 germline mutation

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Questionnaire Completion

Participants complete a questionnaire over 15-20 minutes. Patients positive for a TP53 mutation complete an additional questionnaire within 1 month after test results.

1 month

Follow-up

Participants are monitored for willingness to participate in future trials

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Genetic Counseling

How Is the Trial Designed?

Group I: Observational (questionnaire) Experimental Treatment 1 Intervention

Patients complete a questionnaire over 15-20 minutes. Patients positive for a TP53 mutation complete an additional questionnaire over 15-20 minutes within 1 month after test results.

Who Is Running the Clinical Trial?

M.D. Anderson Cancer Center

Lead Sponsor

Trials

3,107

Recruited

1,813,000+

National Cancer Institute (NCI)

Collaborator

Trials

14,080

Recruited

41,180,000+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC4145599/

Evaluation of a Decision Aid for Families Considering p53 ... Li-Fraumeni syndrome (LFS) is associated with p53 germline mutations, and carriers are at increased risk for multiple primary cancers. We evaluated outcomes ...

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

Cancer Genetics Risk Assessment and Counseling (PDQ®) Cancer genetics risk assessment and genetic counseling includes family history, psychosocial assessments, and education on hereditary cancer ...

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC3627545/

TP53 Testing and Li-Fraumeni Syndrome: Current Status of ... Li-Fraumeni syndrome (LFS; OMIM 151623) is an autosomal dominant cancer syndrome caused by heterozygous germline mutations in the TP53 gene.

4. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1199

Health professionals' practice for young people with, or at ... Li–Fraumeni syndrome (LFS), a rare cancer syndrome caused by pathogenic germline variants in TP53, has serious implications for adolescents ...

5. digitalcommons.library.tmc.edu digitalcommons.library.tmc.edu/context/utgsbs_dissertations/article/1398/viewcontent/auto_convert.pdf

Attitudes and Practices of Genetic Counselors In Providing ... Introduction: Li- Fraumeni Syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome caused by germline mutations in the TP53 gene.

6. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK65817.5/table/CDR0000062865__1425/?report=objectonly

Table 2. Elements of Pretest Genetic Counseling and ... Table 2. Elements of Pretest Genetic Counseling and Informed Consent for Germline Cancer Genetic Testing ; Possible Test Outcomes · No mutation detected.

7. clinicaltrials.gov clinicaltrials.gov/study/NCT05126810

Willingness to Participate in a Trial Comparing Standard ... ... counseling versus personalized genetic counseling based on Li-Fraumeni syndrome patient reported outcome (LFSPRO) ShinyApp data. OUTLINE: Patients complete ...

8. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/full/10.1002/jgc4.70026

Call to action for genetic counseling research in hereditary ... The National Society of Genetic Counselors (NSGC) planned to develop an evidence-based guideline on the outcomes of genetic counseling for ...

9. healthy.kaiserpermanente.org healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.cancer-genetics-risk-assessment-and-counseling-pdq%C2%AE-genetics-health-professional-information-nci.ncicdr0000062865

Cancer Genetics Risk Assessment and Counseling (PDQ®) Pretest Genetic Education and Counseling Outcomes. Cancer risk ... Li-Fraumeni syndrome , Cowden syndrome , Lynch syndrome .