Beth Wood Discusses the Evolution of Genetic Counseling Through Telehealth and Chatbots at AAIC 2024
By Meghan McCarthy
Author’s Note: This article is part of ongoing coverage of the 2024 Alzheimer’s Association International Conference (AAIC). To view all highlights, please click here.
Elisabeth Wood, MS, LCGC, has been a genetic counselor at Penn Medicine since 2003. Originally working for the Center for Neurodegenerative Disease Research (CNDR), she spent decades focusing on genetic forms of dementias and research disorders. She currently works in the Penn Telegenetics program, focusing on research that utilizes telehealth to deliver genetic counseling to research participants
In July of 2024, Wood sat down with Penn Memory Center (PMC) Staff Writer Meghan McCarthy to discuss her latest work using chatbots as an informational resource for individuals interested in or already receiving genetic counseling. She also presented her work at this year’s AAIC in Philadelphia.
Can you contextualize your work? What led you to creating telehealth resources for genetic counseling participants?
Our group at Penn has been involved in research looking at ways to return APOE genetic results to research participants for a number of years. One of the primary methods was through a clinical trial called the Generation Study, where we provided APOE genetic results to individuals who are considering enrolling in a clinical trial for Alzheimer’s medication.
This trial generated APOE genetic results through over 2,600 genetic counseling sessions with research participants. Through that, we knew that once APOE testing became needed for clinical reasons, not just research, we would need additional options for how to get educational and counseling support to patients undergoing APOE genetic testing.
We were able to leverage our prior research experience into developing educational tools for actual patients for individuals with early signs of Alzheimer’s disease or mild cognitive impairment to help teach them about the APOE gene and why genetic testing was being recommended by their doctor, as well as giving them information about what this result might mean to them and their family members. It is about opening a conversation to make sure that patients in general and their family members have an accurate way of accessing information about the APOE gene as well as opening up about questions for any additional genetic counseling support.
What were your specific project goals?
Going into this project, we really wanted to address the genetic counseling needs in the Alzheimer’s clinic. There are frankly not enough genetic counselors to support one onone sessions with every single patient that needs APOE genetic testing. This is specific for patients who are being considered for possible treatment with Leqembi or Lecanemab. As part of their clinical workup for consideration of an anti-amyloid therapy, their doctor has ordered APOE genetic testing. It’s not replacing genetic counseling. It’s another way of supporting genetic counseling needs.
Our goals were to explore a particular technology, in this case chatbots, to be able to provide immediate access to information about APOE. We wanted to take all the same information that we would cover in a standard genetic counseling session and make that information available through a chatbot that can be sent out to any patient that is receiving APOE genetic testing via text message and right from a smartphone. Either the patient themselves or their caregiver can use this link to access a patient-friendly explanation of the basic facts about the APOE gene and the implications of their test results. All the basic facts they need to know about the APOE gene and the implication of their test results.
Can you describe the chatbot? How did your team go about designing it?
The chatbot was informed by the existing research and clinical experiences in genetic counseling for neurodegenerative conditions. In terms of genetic testing, it’s important to recognize both the medical and family significance of a result, as genetics are shared among family members. Because we share our genetics with our family members and so questions of inheritance come up, there is a wide, very rich, a rich background of research that already exists and that we ourselves were involved with. We drew upon a rich background of research, previous patient experiences, and genetic counseling sessions to shape the information provided in the chatbot.
What information does the chatbot offer to users?
Right now, for this pilot stage, it’s largely educational. It’s providing information about the APOE gene, including why a doctor might recommend testing and potential implications for anti-amyloid therapy. It also covers inheritance and what the information might mean for the patient and their family members. The initial focus is on the patient and their and their needs in terms of their potential treatment.
We got feedback that some patients didn’t know that genetic counseling was even available.
This chatbot raised questions about the next steps for sharing information with their adult children because they understood the genetic significance of the APOE gene.
How do people access this chatbot? Are they texted a link that brings them to the platform?
Yes. It’s important to note that we developed this chat in partnership with Way to Health here at Penn Medicine. We relied on their expertise and they were just wonderful to work with.
A text message is sent inviting the recipient to the APOE educational chat. If you are interested, they just reply “yes,” receiving a link that navigates them to a website where they can access the information. This setup minimizes the need for extensive texting. Additionally, there is an option to request assistance from a genetic counselor.
I’m curious, especially with older adults, where there can also be kind of a digital divide going on in terms of like accessibility. How were the chatbots tailored to this demographic?
We conducted a pilot study, sending the chatbot to over 200 patients and caregivers, followed by a survey to gather feedback on user-friendliness and preferences.
We are using this feedback to make the chat better, addressing any issues and focusing on elements that users appreciate. I should note that certainly while we are creating this chat tool to help get education out, I think that a critical feature is the option to request assistance through a message, enabling one of our team members to contact them by phone.
What have been common feedback themes amongst users?
We were able to complete exit interviews with 20 Penn participants and caregivers. Some of the most common positive feedback we heard was that they found the chat to be informative, relevant, helpful and fascinating, in particular in terms of the genetic aspect of this APOE information. Many participants noted that it really helped them to understand inheritance and the different type of test results, and it facilitated conversations with relatives about genetic information.
What are your future visions and hopes for this work?
We hope to use user feedback to improve the chatbot and integrate it more smoothly into a clinical care process. As individuals undergo a diagnostic workup, this tool can provide crucial support during an overwhelming time, not only for the patient but also for their family. The goal is to answer immediate questions, provide clarity, and potentially connect patients or their family members with a genetic counselor for a more personalized session to learn more about possible genetic risk factors for Alzheimer’s disease. Ultimately, our aim is to offer the highest level of patient care, recognizing that genetic information impacts the entire family.