By Benjamin Ross
April 24, 2018 | “I’m unlike any philosopher you’ve ever known or probably have ever heard of,” Tom May, Research Faculty Investigator at HudsonAlpha, said during the research institute’s recent Genomic Medicine Conference. “Why is that? I have a job.”
May’s job is to think about the benefits derived from genomic and genetic testing that aren’t typically considered. “It’s easy for us to look at the clinical benefits of genetic testing in terms of the types of treatments and cures that they might identify based on that information,” May said. “But we also have to be careful not to neglect other types of benefits that may not be quite as measurable.”
For instance, May pointed to how genomic testing affects what he calls a patient’s “nested goals,” or goals that affect other life goals and help shape goals in the future.
Take a glass of water for example, May said. Right now, you might have an itchy throat and so you take a drink of water to achieve the goal of relieving your throat. However, imagine you’re in a desert and you’ve been wondering around for days without food or water. That sip of water immediately becomes a nested goal, May argued. Your entire life depends on that sip of water.
May argues that one of the primary obligations of the researcher conducting the genomic testing and the physician relaying the results to the patient is to assist the patient in changing their nested goals if the genomic test results suggest a disease growth or susceptibility.
“Imagine that you test positive for Huntington’s disease where you’re likely to have a short lifespan,” said May. “The types of goals that you may adopt probably shouldn’t been ones whose payoff is in the distant future; you should assume more short-term goals that can be realized in a way to where you can see the benefits. Genetic information can have these sorts of effects.”
Adoptees, in particular, are benefactors of this mode of thinking, according to May. He says that more often than not, doctors will arrange thorough, extensive genomic testing for patients from adopted backgrounds for the simple fact that they are unaware of familial history with particular diseases.
Genomic testing is extremely important to adopted individuals, says May, for the purpose of formulating long-term goals such as family-planning.
“Almost universally, adoptees are most concerned with access to [genomic] testing in order to provide inherited disease information, not to themselves but to their children,” May says. “I think this means we need to recognize that these nested goals play a very important role in many people’s lives, and we see this illustrated by adoptees in a very dramatic fashion.”
The Family Effect
The implications of such knowledge extend into general family management, which is something Whitley Kelley focuses on in her role as a genetic counselor at the HudsonAlpha Institute.
“As genetic counselors and geneticists, [we need to] look not just at a patient but also zoom out and consider what the [genetic] information means for their family,” Kelley told those in attendance at the conference. “There are specific things about this kind of information that make it far more applicable to family members than cellular types of information.”
Like May’s nested goals, Kelley sees the impact genetic testing has on the life of a patient and their family, mostly on an emotional level rather than a physical one.
This is an arduous task, Kelley says, especially when considering the complexity of family dynamics. A patient might refer to individuals as their siblings when in reality they are half- or step-brothers and sisters. Estranged relatives also come up every now and again where once a patient might not have considered those family members as directly related to them.
“You might encounter someone who had genomic testing of some sort and had a result that they communicated with their family members,” said Kelley. “Now those family members are coming to you and trying to figure out what this means for their own health and their own care.”
When family members approach genetic counselors regarding the results of genomic testing, Kelley says it’s important to acquire the original report.
“Sometimes patients get it wrong,” she said. “They say BRCA1 when it’s actually BRCA2, and the last thing you want to do is sequence the wrong gene.” It is also more practical to sequence specific variants instead of the whole genome.
For Kelley, the difficulty in genetic counseling comes when the genomic testing reveals things that families don’t want to know.
Kelley recalled an experience where a family sought genomic testing for their teenage daughter, who suffered from seizures and had other special needs. The family went through genomic sequencing in order to understand the genesis of their daughter’s condition, and while there was no diagnosis determined for the daughter, a variant for multiple endocrine neoplasia type 2 was detected in both the father and younger sister.
Kelley said that 95% of individuals with this variant have medullary thyroid carcinoma before the age of 35. The father, who was 50 at the time, and the younger sister were both screened and had follow ups and treatment for the variant.
While on paper the story has a happy ending, Kelley said the experience took its toll on the family. “What was particularly interesting about this was that this family had a really hard time with this news and experienced a lot of anxiety and frustration and anger at having this dropped into their laps,” she said.
Kelley spoke with the mother during a follow up interview, who, while not being diagnosed with a variant or disease, was now taking care of her whole family. “Essentially the mom wished she didn’t know this genetic information. She regrets how anxious this has made her whole family with the additional medical management related to this finding [through genomic testing].”
On a macro level Kelley believes in the empowerment of genomic testing, but she also wanted to be aware that some patients and families will feel that the information “steals their joy,” as she put it. “We [as genetic counselors] have to be prepared to guide them through that.”