Hi! We’re scientists from the Koehly Lab at the National Human Genome Research Institute, part of NIH. We study the role of family health history in early disease detection and prevention, and the need for effective tools to gather this information. Ask us anything!

Abstract

Common diseases such as heart disease, diabetes, and cancer are highly complex, with multiple factors that play into your risk of disease development. These factors – like genetics, shared environments, and social influences – tend to cluster within families, which means that knowing your family health history can aid in detecting unique disease risks and help you manage them before becoming sick. In short, your family health history is the combined effects of genetic, environmental, and social factors that contribute to your disease risk – and knowing it is good for your health!

Unfortunately, family health history knowledge is lacking in the U.S., and especially among underserved minority and populations. Work in our lab has been focused on individuals from Mexican-origin populations, as these populations typically experience language and communication barriers between family members, as well as with their doctors and nurses. Mexican-Americans, who make up almost 10% of the U.S. population, are nearly twice as likely as non-Hispanic whites to develop diabetes. In the past couple of years, we have published papers that 1.) examined the link between getting risk information from family health histories and the willingness to share the information with healthcare providers; 2.) investigated Mexican-American’s risk perceptions for heart disease and diabetes after risk feedback based on their family health histories; 3.) studied whether knowing family health history-based risk information impacted the likelihood of parents to encourage their children to be active; and 4.) assessed how positive influences from spouses can influence health behaviors (in press).

But there’s more work to be done. For example, ongoing projects in our lab are now working on using statistical modeling to better predict risk assessment by linking family health history information from multiple family members, and reconciling when your mom and your sister give two different accounts of family health history, for example. We’re also looking at interpersonal mechanisms that may factor into discrpencies in family health history in different racial backgrounds.

In addition, in effort to get more people invested in gathering their family health history, the U.S. Surgeon General has developed a tool, managed by the National Human Genome Research Institute, called My Family Health Portrait. This Thanksgiving is the perfect time, while joining your family for some turkey and stuffing, to collect your family health history using this tool! (https://familyhistory.hhs.gov/FHH/html/index.html)

We’re here to answer your questions, so ask us anything about our research on family health history, and My Family Health Portrait tool!

Your hosts today are:

Laura Koehly, Ph.D., Chief of the Social and Behavioral Research Branch and Head of the Social Network Methods Section at the National Human Genome Research Institute. Gives away moose meat.

Chris Marcum, Ph.D., Staff Scientist and Methodologist, Social Network Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute. Makes a mean moose stew.

Jielu Lin, Ph.D., Post-doctoral Fellow, Social Network Methods Section, Social and Behavioral Research Branch, National Human Genome Research Institute. Enjoys eating moose stew.

Links to some of our papers: Willingness of Mexican-American Adults to Share Family Health History with Healthcare Providers: http://www.sciencedirect.com/science/article/pii/S0749379711001188?via%3Dihub

The impact of personalized risk feedback on Mexican Americans’ perceived risk for heart disease and diabetes: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959204/

Predictors of parent–child relationships that support physical activity in Mexican–American families: https://link.springer.com/article/10.1007%2Fs10865-012-9471-8

UPDATE: Hi Reddit Community! Thanks for the great questions about our work. We're wrapping up, but had a great time answering hosting this AMA for you!

Hi and thanks for joining us today!

So people understand diabetes is bad and they are at risk, how do we get people to care enough to actually change their behavior?

Based on my experience working with NCDs in the South Pacific, most people just assume "getting the sugar sickness" is an inevitability.

PHealthy

One way to motivate people to change their behavior is to capitalize on interpersonal relationships in the family, because behavioral changes are relational in nature (de la Haye et al. 2014; https://www.ncbi.nlm.nih.gov/pubmed/23203139). For example, our research shows that when a parent receives family history-based risk information, he/she is particularly motivated to discuss shared familial risk with their children and encourage them to engage in better lifestyle management (de Heer et al. 2017; https://www.ncbi.nlm.nih.gov/pubmed/27198532). In recent analyses in the context of couples, we found that wives did not change their behavior in response to their own family history based risk, but did change their behavior in response to their spouses’ increased risk. These results suggest that behavior change may come through risk information about a loved one, activating what we may call “protection motivations”. The intervention message we have been trying to deliver is that diabetes risk--and complex disease risk in general--is influenced by both inherited genetic susceptibility and common environment and as a result, one person’s risk information is inherently relevant and important to others. We think such a message conveying the idea of “shared familial risk” is effective for activating pathways in the family network, which is a key point for helping family members adopt healthier lifestyles and adhere to screening recommendations.

Also, because genetic attribution can sometimes increase stigma and/or introduce the (wrong) perception that complex diseases are inevitable, intervention messages need to incorporate behavioral/lifestyle recommendations---specifically what people can do themselves, and can encourage their relatives to also do, in everyday life.


Thanks for coming to join us today! Do you think relatedness detection algorithms within large EMR/dna databanks could help link people to relatives and the relatives family history? This seems like something that could be implemented in systems like BioME, BioVU, the MEC, etc (thinking along the lines of EMERGE groups).

p1percub

Yes! There are a of couple ways that linking existing health records between patients can be leveraged to improve risk assessments of individuals. One way, as you’ve mentioned, is to use known genetic information in health records to estimate the relatedness between individuals and then pass that information to risk-assessment algorithms. This may be a viable option when such information is available for all patients in a record system. Health records also often contain other information that may be important for risk-assessment, such as health behavior and family environment factors. Another approach is to build record systems that incorporate such linkages from known members of a family. In this way, information about diseases, tests, and health behaviors, could be integrated into risk-assessments without the need for exact genetic information per se. Of course, such systems would have to overcome privacy, consent, and logistical issues to be used in a clinical setting. In the meantime, both types of systems are currently being explored and developed in research settings.


I could not help but think of the actuarial implications of this type of information. What might you say to someone who finds this research fascinating, but is unwilling to cooperate or share truthful information because of the fear that in doing so they may hurt themselves financially?

adenovato

This is a great question with many different layers to consider. If you’re referring to your protections as a research participant, the National Institutes of Health is very aware of these issues. In fact, due to the 21st Century Cures Act, which was enacted December 13, 2016, privacy protections for research participants have been strengthened. Now, a new policy specifically requires additional protections for sensitive information collected from participants as part of federally-funded research. The NIH recently put forth this new policy requiring all NIH-funded investigators conducting sensitive, health-related human subjects research be issued Certificates of Confidentiality instead of by researcher request. More information on this can be found here: https://humansubjects.nih.gov/coc/index.

From a health care services perspective - and importantly the health and well-being of you and your family - prevention is far more economical than the financial consequences of complex disease management. So, on this week of giving thanks, take some time to collect your family health history to inform preventative strategies for yourself and your family! See My Family Health Portrait for one way to help your family with this discussion: https://familyhistory.hhs.gov/FHH/html/index.html .


I could not help but think of the actuarial implications of this type of information. What might you say to someone who finds this research fascinating, but is unwilling to cooperate or share truthful information because of the fear that in doing so they may hurt themselves financially?

adenovato

Here's some more information about the Genetic Information Nondiscrimination Act (GINA). GINA was passed in 2008 to help prevent discrimination by health insurers (although not all forms of insurance are covered by GINA) and employers.

GINA prohibits health insurers from discrimination based on the genetic information of enrollees. Specifically, health insurers may not use genetic information to make eligibility, coverage, underwriting or premium-setting decisions. Furthermore, health insurers may not request or require individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the law, genetic information includes family medical history, manifest disease in family members, and information regarding individuals' and family members' genetic tests.

You can read more about GINA and other related laws at NHGRI's website: https://www.genome.gov/10002077/genetic-discrimination/


Hi guys,

What do you think about the DNA/genetics profiles provided by companies like 23andme. Do they provide any meaningful or actionable insights at this moment.

john_mullins

In recent work, Robert Green and colleagues showed little impact of genetic risk information through direct to consumer personal genomics (or DTC companies, like 23andMe; see https://academic.oup.com/ntr/article/18/12/2273/2858111 and https://www.ncbi.nlm.nih.gov/pubmed/27937091, for example).

While such results may be disappointing, there may be little reason to believe that this information should change behavior at present. The predictive ability of any common variant we can provide for people may be very weak. However, communication about the holistic concept of genomic, family-based risk (as opposed to returning a few SNPs, or single nucleotide polymorphisms), as well as the potential risk profiles associated with future genomic technologies may be able to accomplish much more with respect to behavior change. In addition, genomic information alone may not be sufficient to motivate behavior change.

We think that DTC opportunities have potential to increase the salience of meaning of family health history information when a consumer receipts genetic test results consistent with their family health history and, therefore, their lived experience. In so doing, individual’s understanding of risk may be augmented from their genetic test information often motivating engagement in risk reducing behaviors or screening.

However, results from the Family Healthware Impact Trial indicate that provision of family health history based risk assessments with personalized behavioral recommendations resulted in modest, yet significant improvements in self-reported health behaviors (see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022039/). From our work, we have found that family health history may play a significant role in motivating engagement in risk reducing and screening behaviors, particularly by leveraging kinship ties (see: http://journals.sagepub.com/doi/full/10.1177/1090198116644703)

Notably, many DTC services provide opportunities to connect with other users, including family members, who may be a source of Family Health History. This allows you to connect with extended family members with whom you are biologically related, providing opportunity to find out new information related to your family health history that may be important for you and your family members!


Are there any options for someone who doesn't know their family history, due to estrangement or another reason? Can additional tests be requested from a doctor, or does something like 23 and me the best option?

cooptown03

This question taps into a big issue with family health history: what if you don’t know it? There are many reasons that this may be the case. Some of these reasons include estrangement from family members, orphans, deaths in the family, adoptees, or simply because family culture precludes discussion of personal health. Options for individuals that do not know, but wish to learn, about their FHH are limited. Direct-to-Consumer genetic testing and ancestry services provide one route to possibly connect with unknown relatives and learn FHH from them. Another important aspect is preventative care, especially for those who do not know their FHH, by screening for disease at an earlier age and more frequently.


I have a question about Osteoarthritis. Has there been any research on the specific genetic links to this disease? My family has this issue. Thanks

TAY6294

While it’s not great to hear that this condition runs in your family, it IS great that you and your family share this information with each other. Our research isn’t on osteoarthritis, so we can’t answer specific questions about the disorder, but as Reddit user rdflme (see above) points out, the NLM has a fantastic resource for you!


What privacy hurdles must you overcome to effectively model and resolve discrepancies in patient submitted family history?

adenovato

This is a great question because privacy issues are an overarching hurdle when communicating about family health history for individuals, families, and healthcare providers! Scholars in the field of Communication (see http://www.tandfonline.com/doi/full/10.1080/15267431.2015.1076423) suggest individuals deem private information as something they ‘own’ and have the right to ‘control’. Therefore, one of the biggest challenges to resolving discrepancies in patient submitted family health history is identifying at what level patients feel they own their family health history information and want to control its dissemination to other family members. If a patient feels they have personal control over their information resolving those discrepancies will be more difficult than if they take a family ownership perspective. Better understanding these perspectives might make conversations with patients about FHH easier and a little clearer.

Still, even when individuals openly share their family health information, there may be discrepancies that pose additional challenges in using that information to improve risk assessments and behavioral recommendations. In our research, for example, we’ve found that having more family members inform on the family health history may even improve individual risk assessments (Lin et al. 2017; https://www.ncbi.nlm.nih.gov/pubmed/28062275 ). Therefore, we suggest embracing as many family members’ perspectives on your family’s health history as possible! Communication between family members will also help individuals reconcile differences in family health history knowledge.


Hello you are all awesome and thank you for this AMA!

How many generations can a disease last? If it stays going forever, can that mean that there will be some point in life, ALL people existing have different disease that are inheretedly acquired?

bronxyle

Different diseases and disorders have different patterns of inheritance. NHGRI provides some educational resources that help clarify these important concepts; see https://www.genome.gov/glossary/ and https://www.genome.gov/pages/education/modules/basicspresentation_vs2.pdf, for instance. In the context of common, complex disease (such as type 2 diabetes, some cancers, and heart disease), we inherit genetic susceptibility to disease. Since these disorders are influenced by genetics, environment, and behavioral factors, having genetic susceptibility does not mean that one is necessarily going to develop disease. Older individuals often know more about the disease constellations within the family, so it is important to encourage conversations between younger and older generations about family health to ensure that everyone is aware of any family history of disease. Family health history captures the joint effect of genetic, environmental and lifestyle factors that are clustered in families and is therefore a more powerful predictor of population-level pattern of complex diseases. As well, our work suggests that family history based risk can be an important motivator in engaging in risk reducing behaviors or screening behaviors aimed at early detection. Importantly, family health history is a living document and ever changing. So, please, have a conversation with your family this Thanksgiving and update your family health history! See: https://familyhistory.hhs.gov/FHH/html/index.html.


Awesome topic.

Other than language/communication barriers, what kind of barriers are there to engaging Hispanic populations in genomic and health research? I know a lot of populations have an (understandably) deep mistrust of research-how can researchers foster trust and increase engagement in such communities?

823freckles

In Project RAMA (Koehly et al. 2011 http://www.ajpmonline.org/article/S0749-3797(11)00118-8/abstract ) we partnered with MD Anderson Cancer Center and their Mano a Mano cohort. One priority in this collaboration was to give back to the community. This research was grounded in a community-based approach in which we hired our research staff from the community, engaged an advisory board from key community stakeholders, and we gave our participants something back (i.e., their family health history, risk feedback and behavioral recommendations based on their risk, and community resources). We attribute our 93% retention rate over the course of the study to this community based perspective.
Our lessons learned really speak to the importance of engaging community members and community leaders in the design and implementation of genomics research involving often underserved communities. At NHGRI as a whole, we are deeply committed to engaging diverse and underserved populations in genomics research. In fact, just yesterday, our leadership published a paper in Nature Reviews Genetics on where we are missing the mark and what we are doing to help both in terms of funding and training minority scientists. Please see the paper here: https://www.nature.com/articles/nrg.2017.89).

We also have a new initiative at NHGRI known as the Genomic Literacy, Education, and Engagement (GLEE) initiative to enhance the genomic literacy in targeted groups. See the wesbite for more information: https://www.genome.gov/27568594/genomic-literacy-education-and-engagement-glee-initiative/. And lastly, as part of our advisory council for NHGRI, we have a community engagement working group to tackle these very issues! https://www.genome.gov/27568486/community-engagement-in-genomics-working-group/.


That's just one letter away from NiMH. Do you have any super smart rats?

epicfail331

The NIMH is part of the National Institutes of Health, or NIH. The NIH is made up of 27 institutes and centers that each have a specific disease area or focus. NIMH, is also known as the National Institute of Mental Health and is the lead federal agency for research on mental disorders. Part of the book, Mrs. Frisby and the Rats of NIMH (of which you’re referring) takes place at NIMH. We are researchers from NHGRI, or the National Human Genome Research Institute, one of NIMH’s sister institutes at NIH. But, no, we don’t have super smart rats!


Thank you so much for the AMA! What are your thoughts on integrating genome sequencing into primary care? And if in favor, how do we go about implementing policies? What are foreseeable barriers?

radiopinetool

This is a very hot topic at NHGRI right now! In fact, our Division of Genomic Medicine, within our Extramural Research Program (the part of the institute that gives money to researchers across the country for cutting-edge research), is very invested in this work. We have many different programs (groups of researchers across the country) that are tackling this program. From our Implementing Genomics in Practice (IGNITE; https://www.genome.gov/27554264/implementing-genomics-in-practice-ignite/) program, to our Clinical Sequencing Evidence-Generating Research (CSER2; https://www.genome.gov/27546194/clinical-sequencing-exploratory-research-cser/) program we are enhanching the use of genomic sequencing in the clinic by supporting the development of methods for incorporating genomic information into routine care and exploration of the methods for effective implementation, diffusion and sustainability in diverse clinical settings. Many of these programs are tackling some of the barriers that exist including what are the best ways to return results from genomic sequencing to patients? What are the ethical, legal and social implications (ELSI) of this type of work? This is a great question, and more information on this topic can be found here: https://www.genome.gov/27550079/division-of-genomic-medicine/.


Hi there!

Your project is without doubts extremely important. So I'm wondering how you're able to achieve your aim with all the patient privacy requirements. Isn't archiving patient anamnestic data basically illegal?

lucaxx85

Patient privacy is certainly an important issue. Archiving patient data is commonplace in electronic health records. Our work suggests that we might be able to link such information across electronic health of related individuals including, for example, family health histories, disease diagnoses, and associated risk factors in order to obtain more sensitive risk assessments (Lin et al. preprint https://osf.io/yrj9t/).


Hi and thanks for ama.

My question is on vesicoureteral reflux. Are there known causes and/or genetic links of this condition?

[deleted]

While this isn’t our area of expertise, we can provide you with a great resource from the National Insitute of Diabetes and Digestive and Kidney Diseases (NIDDK, here at the NIH) that can be found here: https://www.niddk.nih.gov/health-information/urologic-diseases/urine-blockage-newborns/vesicoureteral-reflux.

In sum, there are two types of vesicoureteral reflux. With what is known as primary VUR, a child is born with a ureter that did not grow to its full length. Secondary VUR happens when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Hope this is helpful!


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