Q: What are the chances of inheriting Li-Fraumeni Syndrome?
A: Each person has two copies of the TP53 gene. One copy is inherited from the mother, and one copy is inherited from the father. If a person inherits one TP53 gene mutation from either his or her parent, it will cause LFS. Each child of a person with LFS has a 50% (1 in 2) chance to inherit LFS. It does not skip generations.
Q: Are there any benefits for being involved in the research study?
A: There may be no immediate benefits for you by participating in the research study. Your participation in the study may help researchers and physicians learn more about the genetic causes of cancer and help them find ways to better diagnosis cancer. Our goal is to use the information gained from this study to develop better cancer prevention and treatment options for individuals and families such as new tests, drugs or procedures.
Q: Will the information that I share in the study remain confidential?
A: Maintaining confidentiality is one of the highest priorities in the study. All information that you share with us regarding yourself or your family members is kept confidential and used for research purposes only. The information collected from our study participants is maintained in computerized files and stored in a password-protected database and in paper files kept locally in locked filing cabinets in a locked office. The information is accessible only to persons on the research team. Research personnel are bound by medical confidentiality laws and state and federal restrictions to protect your privacy. Furthermore, the study contains a certificate of confidentiality to protect identifiable research information against forced disclosure. This ensures that we cannot be forced to disclose any information about you that is collected as part of the study.
Q: How does my participation affect my insurance?
A: Your participation does not affect your insurance. We are performing a research study, not a clinical service. Therefore, we do not work with insurance companies at all. The information that you provide in this study will not appear in your medical records, unless you would like to and gives us permission to include it in your records. This can be important in some cases, where a genetic change has been identified that may affect the course of treatment or management for certain individuals.
Q: What does my participation involve?
A: Participation would require the following:
- A small blood sample from you (and possibly other members of your family) that you can coordinate during your visits with your primary physician, or during your visit to MD Anderson (if you are MD Anderson patient)
- Signing informed consents that will allow us to process your blood sample and disclose results to you (if you would like to know your results)
- Completing a family questionnaire discussing your own and your family’s health
- Occasional follow-up questionnaires discussing any changes in your family history such as births, deaths, new cancer diagnoses and other major life events.
When appropriate, we may provide genetic counseling and advice to interested patients and their family members.
Q: Do I need to fast before having my blood drawn?
A: No, fasting is not required for our research samples.
Q: How much blood will you draw?
A: The amount of blood required for the study is about 10 teaspoons per participant.
Q: What happens with the blood samples that we give you?
A: When we receive your blood sample, it is sent to an approved research laboratory where the genetic material (i.e. DNA, RNA) is tested for differences in the genetic makeup. Results from the completed test are then sent to our Principal Investigator, Dr. Louise Strong. Any remaining blood from the sample may then be frozen for future use.
Q: What happens if you find something in my blood sample?
A: Your sample is important in helping us identify genes (such as TP53) that may be related to inherited cancer in families. If we find something that would have an effect on your health or your family’s health, we will contact you to discuss it further.
Q: Is the TP53 genetic testing done by your research laboratory free of charge?
A: Yes. The test is for research purposes only and is free of charge to the participant. Our research laboratory is not a Clinical Laboratory Improvement Act (CLIA)-certified laboratory. This means that if you are going to use these results to aid in health management decisions, you and your doctor/genetic counselor may want to consider the option of confirming the research results in a CLIA-certified lab, at the cost of the patient.
Q: Why is CLIA important?
A: CLIA is a law which requires that any laboratory that examines human samples such as blood, tissue, saliva, and DNA for diagnosis, prevention, or treatment be certified by the Secretary of the Department of Health and Human Services.
Q: I am a genetic counselor/health professional from an outside institution who would like to refer a patient/family to your study. What do I need to do?
A: Please contact either Dr. Strong or our cancer genetics study coordinator at 713-792-7555 to discuss your referral. We normally need a de-identified copy of the family pedigree and any specific information about your patient that you think may be relevant for us to determine study eligibility. Once Dr. Strong has reviewed this information and confirmed eligibility, we will get in touch with you and send you a referral form, which you and your patient can fill in. This referral form will let us know that the patient is interested in becoming a research participant and will give us permission to contact him/her at their preferred day/time.
Q: How does my tissue sample and/or my blood sample help the research study?
A: Surgical tissue samples and blood samples are processed the same way. A portion of the blood or tissue sample will be sent to different laboratories and reviewed for changes in your genetic makeup. Your sample will help us learn more about the genetics of cancer. Any blood or tissue left over from your sample may then be frozen in our tissue bank or in our laboratories for future use.
Q: Can I still participate in the study even though I don’t want to give a blood sample?
A: Yes, you are able to participate without giving a blood sample. Your participation is very important to us, and we appreciate your providing any information that you wish to share.
Q: How do you maintain sample confidentiality?
A: We label all blood samples with unique participant identifiers. Therefore, blood samples do not have your personal identifiers.
Q: Why do you need copies of my medical records?
A: We need copies of these records to document and review any necessary information that may help us learn more about your health history. We also need them to document any reported cancer/tumors and obtain more detailed information about your diagnosis eg. stage of cancer, histology markers, type of treatment etc.
Q: Why do you need my medical records if my tumor was benign (noncancerous)?
A: We need your medical records to document development of any tumors/growths regardless of whether they are benign (noncancerous) or malignant (cancerous) to find out if the genes we are investigating are associated with any benign conditions as well.
Q: May I have a copy of my family history/pedigree?
A: Unfortunately, we are unable to provide you with a copy of your family history/pedigree, if there has been more than one family informant that has helped us to construct the family pedigree. To protect participant confidentiality, we cannot share any information about family members that we have gathered from you and other family members.
Q: My family has not been affected much by cancer. Why do you continue to follow our family?
A: Continuing to follow your family as well as families that have more individuals with cancer is important to be able to understand why cancers develop in some families but not in others over time. We are also interested in learning about the next generation of family members.
Q: I have to sign different forms when I join the study. What is the difference between informed consent and authorization forms?
A: The informed consent is an important document approved by the MD Anderson Institutional Review Board. By signing this document, you are voluntarily agreeing to participate in our study. It contains information about the purpose of the research, the procedures involved, any possible risks/benefits, and confidentiality. The authorization form is used to disclose protected health information. By signing this form, you give us permission to access your medical records at outside institutions.
Q: What if I do not want to continue my participation in the research study?
A: Your participation in this research is strictly voluntary. You and your family members may withdraw at any time by informing us by telephone or mail.
Q: I have been part of your study for a number of years, but my personal information and/or family cancer history has changed since our last contact. How do I update my information?
A: Please call us to give us your new information at our toll-free number (1-877-900-8894), main line 713-792-7555 or send us an e-mail at firstname.lastname@example.org. If you use e-mail, write a message stating that you want to update your information, and a member of the team will contact you at their earliest convenience.
Q: Where do I find LFS support groups?
A: The Li-Fraumeni Syndrome Association (LFSA) has recently been formed by group of families in the USA, and they are an advocacy group for patients and families affected by LFS. There is also an online support group on Facebook.
Q: I am concerned about my personal and family cancer history. Where do I find a health professional that can address my concerns and/or organize genetic testing for LFS?
A: If you live in USA please go to the website for the National Society for Genetic Counselors to speak with a local genetic counselor about your concerns. They will be able to construct your family pedigree and based on that estimate your risk of being affected or at risk of having LFS. If you live in Canada, please search https://cagc-accg.ca/. If you live in Australia/NZ search: http://www.asgc.org.au. If you live outside of these countries, please search your respective genetics services.
Q: I do not live in North America but would like to participate in LFS-related research. How do I find out if there are any LFS research groups in my country?
A: This will vary depending on where you are. The best place to start is talking to your local genetics service professionals who may be able to put you in touch with genetic research studies you may be eligible for.