Laura Koehly: Sharing family health histories
Laura Koehly - Image courtesy of Laura Koehly and the National Human Genome Research Institute
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Kat: While most people in the world don’t have any scientific knowledge of genetics - although I’m doing my best here folks - most of us do have practical experience of the field, in the form of our family. Our family histories can reveal incredibly valuable information about our health and risk of different diseases, but only if we know who and what to ask. Dr Laura Koehly is a senior investigator at the National Human Genome Research Institute, with a special interest in helping people unlock the information hidden in their family health histories, particularly focusing on underserved and less privileged communities. I wanted to know why this information is so valuable.
Laura: You know, we can think of family health history as a clinical tool. So it's a genomic tool that's used in a clinical setting to do genetic risk assessment. So those patients that have a strong family history, so a lot of family members affected by a condition are at increased risk of disease. And that information can be used for referral to genetic services for example. We see that in particular, in the context of families with inherited cancer syndromes it can also be used to personalise health care. For example, individuals with a strong family history will be referred in for screenings often more frequently and at an earlier age. And it can also impact lifestyle recommendations that clinicians might give to patients with a strong family history. But none of that can happen if patients come into the clinical setting without information.
Laura: So if they don't know their family health history, then these personalised healthcare services can't occur. And what we found from our work is that in particular, those in younger generations do not know a fair amount of their family health history. So we've done a couple of studies looking at family health history knowledge across age groups in families and one of the things that we found is that our study participants who were in the younger age group did not know almost 30% of their family health history, particularly those in minority groups.
Laura: So our Mexican heritage family members who were ages 18 to 30 did not know about 30% of their family health history. Participants who identified as black in these age groups from 18 to 30 did not know about 30% of their family health history in contrast to our non-Hispanic white participants in those same age groups who did not know about 15% of their family health history. So there was definitely a disparity in family history knowledge. And when we looked at older generations, there was no disparity in family health history knowledge. So our older family members regardless of their racial identity, did not know about 15% of their family health history. So what this suggested to us is that if we could get families to talk about their family health history and to share information about their family health history, we might be able to reduce this knowledge disparity within these minority populations.
Kat: So tell me a bit about the project that you're working on now, who are the people that you're working with, the families, where are they and what are you doing?
Laura: Yeah, so what we're doing is we developed In, I want to say in 2015, we developed a workbook. So it's a handheld workbook. We're talking low tech here. Our goal was really to increase genomic literacy by helping individuals understand how their family health history fit into their increased risk of disease. So the workbook focuses on five disease contexts. We have breast cancer, colorectal cancer, heart disease, type two diabetes, and we just added prostate cancer. And for each of these disease contexts, we provide a little bit of information with regards to what those conditions are, what are the risk factors for those conditions, what they can do in terms of early detection and screening behaviours, and then we have a risk algorithm.
Laura: And so those who receive the workbook can look at their family health history, and they can fill in the algorithm to evaluate whether or not they are at increased risk of disease. Importantly, we realise that for these conditions they're complex, right? So it's not just about genetics, it's also about lifestyle and behaviour. And so it's an opportunity to understand how those factors work together and how they're represented within their own personal pedigrees. And then we also provide worksheets for other family members. So our goal here is really to help increase literacy empower, um, individuals to use the tool in both clinical encounters, as well as encounters with their family. And that's what we're finding in terms of the research. So when we developed the workbook in 2015 the sample that we engaged at that time was largely I would say well educated upper middle class in terms of, their resources and resource availability.
Laura: And we did not have a large representation in terms of diversity within the sample. So our participants were primarily white and we were interested, given some of the results we had found in our previous project, whether or not the tool would have meaning and salience to other populations. And so we actively engaged under resource black communities in the Washington DC and Baltimore area to evaluate the workbook and receptivity to the workbook and identify whether we had to tailor aspects of the workbook specifically to the communities that we were working in.
Kat: So how did it go down when you brought this thing to the community? What did people say? How do people respond?
Laura: Yeah, I mean, we were really pleased. We engaged about 51 individuals from these communities conducted a detailed family health history and mailed the workbook along with their personalised pedigree to them, and then reached out about four weeks later to see what they did with the information. Did they understand the information and asked for feedback, right. So how can we modify the workbooks so that it's useful for you and your family and 98%, so 50 out of the 51, said they used the workbook, they were able to assess their risk, and about three quarters of the participants shared the feedback with others, including healthcare providers, but mostly family members. They showed the workbook, so actually shared the workbook to family members who in turn, of those who received the workbook to look at it themselves, about half of them were able to use the algorithm as well to assess their risks. So we felt like this was a highly successful endeavour in terms of the accessibility and usability of the workbook and it appeared to activate communication processes within the family.
Kat: Laura’s work with the community in Baltimore helping them to uncover their health inheritance has made her reflect on her own role in her family’s history too.
Laura: Our younger generations do not know a fair amount of information about their family health history. So, you know, often the keepers of that information are the older generation. And you know, I was actually thinking about this last week where my my uncle passed away last week and he's my father's brother. And it was this realisation suddenly that I am now, me and my siblings and my cousins, are now the oldest generation that's living in my father's family. And there's so much that I'm like, oh my gosh. Now I'm playing point in my family. So if my nieces and nephews and, you know, my cousins, children need information in terms of their health history, they're relying on us and I'm not sure we know everything, right? So this family share tool is an opportunity for families to have these conversations with older generations and archive and curate that information. So it's there for younger generations, because at some point the younger generation is going to be the oldest generation, right.
Kat: That’s Laura Koehly, from the National Human Genome Research Institute.
Find out more about the Family SHARE workbook: https://www.genome.gov/news/news-release/NIH-researchers-expand-Families-SHARE
