So, you’ve joined a research study that includes genetic evaluation… now what?

Come prepared for your initial visit!

As you work with your Clinical Research Coordinator (CRC) to plan your initial study visit, you may wonder if there’s anything you need to do to prepare for your upcoming visit. First, it is always a great idea to check in with your CRC prior to the visit. You and your CRC may discuss the location, parking information, schedule of activities, whether fasting is required for any activities such as bloodwork, if any medical records are needed for review, and more. In addition to activities you may have on your schedule like a brain MRI, blood draw, lumbar puncture, neurological exam, and cognitive testing, another important study activity is the collection of your family history.

Family history information is vital for research on FTLD. Up to 40% of FTD is considered familial, meaning the person with FTD has at least one other relative with FTD or a related condition like ALS (amyotrophic lateral sclerosis). When there is family history of FTD or related conditions, the chances a genetic cause can be found for the person’s FTD is much higher. In instances where there is no known family history (meaning no one else in the family has developed FTLD conditions), a genetic cause may still be found on testing up to 10% of the time.

Our study team tries to keep track of family history information from year to year. This process may differ slightly, depending on if you choose to meet with a Genetic Counselor (GC) or not. However, whether you discuss family history information with a GC or a CRC, the following documentation is helpful to have readily available:

1. A copy of any genetic testing results from testing you or biological family members have completed if relevant

   1. Specific to genetics associated with Frontotemporal Degeneration (FTD), Amyotrophic Lateral Sclerosis (ALS), Parkinson’s Disease (PD), and Alzheimer’s Disease (AD)

2. Information about your family history – thinking as far back as your grandparents

3. Any questions from you or other family members

4. A support person or people who may be able to help provide information about your family history and/or support you through the research process

   
   

Usual questions that our team may ask when collecting a family history include:

• Who in the family has had neurologic or psychiatric conditions (diagnosed or symptoms)?

• What age did they start having symptoms?

• Do/did they have any other health problems?

• Have they had genetic testing done for that condition?

• What age did they pass away, and what was the cause of death?

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If you do not have all the information for the questions we ask, that is okay! Not everyone is going to have detailed information on every family member, and many of the conditions we discuss can be highly personal. We recommend doing your best to prepare for these questions in advance but do not feel badly if you don’t have all the answers.

If you are planning on meeting with a GC for genetic counseling with the option of genetic testing it is strongly recommended to bring a support person with you to these appointments. While it is not always required to have another person with you during the initial genetic counseling session, it is highly recommended to have someone to support you through a results disclosure session if you choose to undergo genetic testing. This support person can be anyone close to you – a significant other, a family member, a close friend – and you can bring as many people as you’d like along with you (sometimes whole families will join these sessions).

To sum up, it is always good practice to discuss any preparations with your CRC prior to your study visit. The family history is an important tool that helps further our research by analyzing if anyone else in the family has been affected by FTLD or related conditions, and it may also inform you if any other family members could be at risk for developing these conditions in the future. Come prepared with copies of any genetic testing reports, information on both immediate and extended biological relatives, any questions you may have, and anyone to bring with you for support if you wish. Our team is always happy to assist you in any way we can, especially to ensure that your research experience goes smoothly.

If you have questions related to genetics within our study protocols, please reach out to our Genetics CRC, Julia Kwiecinski (215-746-3843; Julia.Kwiecinski@Pennmedicine.upenn.edu).

~ Senior Clinical Research Coordinator, Julia Kwiecinski