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Geisinger Trial to Evaluate Chatbot to Boost Cascade Testing in Familial Hypercholesterolemia

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NEW YORK – A new clinical trial is testing the use of chatbots and other tools to communicate disease risk to patients' relatives in the hopes of improving the uptake of cascade testing.

Last November, a Geisinger Health System-led team received a four-year, $2.8 million grant from the National Heart, Lung, and Blood Institute to develop new ways of identifying people with familial hypercholesterolemia and bolster cascade testing of the disease. FH affects about 1 in 250 people and leads to high levels of low-density lipoprotein cholesterol in the blood, which raises individuals' risk of developing coronary artery disease or having a heart attack.

Despite being a relatively common condition, as many as 90 percent of FH cases go undetected. According to Katherine Wilemon, the CEO of the FH Foundation, individuals might know that heart problems run in their family or that they have high LDL cholesterol levels but not know there is a genetic underpinning to their condition.

Through the IMPACT-FH study — which the researchers outlined in Circulation: Genomics and Personalized Medicine earlier this year — researchers from Geisinger, the FH Foundation, and elsewhere are examining whether automated screening approaches such as scouring health records or genetic data to identify people to be evaluated for FH can identify more patients. And it is particularly examining whether approaches like direct physician contact or even chatbots can help communicate to patients' families their risk of also having FH and spur cascade testing.

"The trial is where we're going to launch these new tools out to probands and basically see how they perform," Amy Sturm, a professor and genetic counselor at Geisinger, said.

If they perform well, the communication tools could be further integrated with the screening approaches to offer information about FH to patients identified through those means. The tools likewise could be rolled out for other genetic conditions in which cascade testing is performed.

Within FH, cascade testing, in which the relatives of people diagnosed with the condition seek genetic testing to determine if they too have FH, is low. According to Sturm, cascade testing has an uptake of about 10 percent among at-risk relatives of individuals with a genetic disorder. But among relatives at risk of FH, the uptake is lower, about 3 percent, suggesting there may be additional barriers to cascade screening among FH patients.

Currently, Sturm noted that the standard of care in genetic counseling is a "Dear Family" letter that is given to diagnosed individuals to help them talk about their diagnosis with at-risk relatives.

But this can put the onus of describing the condition and relatives' risk of also having it on patients. Instead, the IMPACT-FH study is investigating whether direct contact between doctors and at-risk relatives — an approach not often used in the US — or chatbots increase cascade testing.

In a series of focus groups and interviews both with people with FH and clinicians, Sturm and her colleagues gauged whether stakeholders found these communication methods to be acceptable, appropriate, and feasible. As they reported in June in the Journal of Personalized Medicine, they queried about 40 individuals about the approaches, and patients largely said that these communication approaches could simplify informing their relatives of their diagnosis and of the implications for family members.

The IMPACT-FH trial is in particular using the Genetic Information Assistant, or Gia, chatbot developed by Clear Genetics, which is now part of Invitae. Clear Genetics developed the chatbot as a supplement to genetic counselors to help triage patients and provide genetic information. Sturm and others at Geisinger worked with Clear on the development of Gia and, in 2018, began implementing Gia to help communicate with its MyCode Community Health Initiative participants.

In the trial, patients diagnosed with FH will be given a "Dear Family" letter and can also choose whether they want at-risk relatives to be contacted directly or via the chatbot. If they choose the chatbot, the patients will receive a link they can use to send the chatbot via text, email, or Facebook Messenger to their family members.

Moran Snir, the head of emerging platforms, data, and SaaS at Invitae and the founder of Clear Genetics, noted that they suggest the patients reach out to their relatives in some other way first, so they know to expect the chatbot and not dismiss the message as spam. In the focus groups, individuals with FH also expressed an interest in being able to first reach out to family members before they are contacted by other means.

"For the relative, [the chatbot] walks through what test the proband went through, what was found, what does that mean for the relative based on how close they are — if they are a first-degree relative or they are a second-degree relative — and then what they should do to know if they're at risk, and that's genetic testing," Snir said.

The chatbot additionally includes multimedia videos and gifs developed along with the FH Foundation that walk though different patient scenarios — such as being young and unsure if you have FH or being older and knowing you already have high cholesterol — to explain why genetic testing is important.

Also built into the chatbot is the ability for relatives to order their family variant test. This, Sturm noted, costs about $20 for a physician at Genome Medical to review and place the order with Invitae. A test kit would then be shipped to the relative's home. This, she adds, is available to family members not only in Pennsylvania but across the US.

"We're really excited to see if people are willing to engage with the cascade chatbot, willing to put in their credit card information, and order their cascade test because they probably had other barriers up in front of them before where they may not have taken that extra step to find out if they have FH or not," Sturm said.

The first samples for the trial were sent to Invitae for testing in mid-June, getting the study underway, according to Sturm. In all, the researchers aim to enroll at least 150 individuals diagnosed with FH from the MyCode program, who will be given the option of offering, in addition to the letter, direct contact or the chatbot communication methods to their relatives. If, after six months, the relative has yet to order cascade testing, the researchers will reach back to see if the initial patient wants to try another approach instead. Final analysis of cascade testing uptake will then be after a year.

If all goes well, Sturm said she hopes to integrate the cascade chatbot with the other FH patient identification methods the trial is examining using the DiscovEHR cohort. It is additionally evaluating two electronic health record-based tools — the Flag Identify Network Deliver FH, or FIND FH, tool from the FH Foundation and the Screening Employees and Residents in the Community tool from Mayo Clinic researchers — that scan health records for indications that people might have FH and recommend them for follow-up testing. A previous analysis found that the FIND FH tool correctly identified someone with FH 8 out of 10 times. Another method under study is a genomics-based approach that flags individuals suspected of having FH based on the presence of pathogenic or likely pathogenic variants linked to the condition.

Additionally, Snir noted that the cascade chatbot can scale up to be used for other genes and disease states. That idea was echoed by Sturm who said it could potentially also be used for cascade testing in hereditary breast ovarian cancer syndrome and Lynch syndrome.

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