genomics & society

Genomic Health Literacy

Posted by Myra I. Roche on June 14, 2011

Health Literacy and Genetic Information

Health literacy, or rather, health illiteracy, is ubiquitous, correlated with worse chronic illness control, and increased emergency room usage.  As patients take (or are left with) more responsibility for making medical decisions, they increasingly rely on the internet for information, leaving those with low literacy, including parents, at considerable disadvantage.  While all medical specialties have barriers preventing patient understanding, the literacy hurdles in understanding genomic information are indeed so high that even other doctors find them difficult to scale.

What is health literacy and why should we care?  Health literacy is the “capacity to obtain, process, understand, and use health information for decision-making”.  Health literate people know what information they need, where to look for it, how to find it, how to interpret it, and how to act on it.  These skills are essential for making “good” choices; that is, those that are consistent with an individual’s values and beliefs but not conflicting with standard medical practice.  Complex decisions, such as weighing risks and benefits of procedures, drugs, or treatments, demand high levels of understanding.  Information that is both unfamiliar and communicated during stressful situations negatively affects understanding; genomic information meets both of these criteria.  Health literacy, often synonymous with reading ability, is strongly correlated with education level but highly motivated individuals, such as parents, have higher literacy levels than would be predicted by their educational status alone.

How bad is it?  According to the National Assessment of Adult Literacy (NAAL) 15% of US adults have “below basic” skills which prevents them from being able to circle the date on an appointment slip.  One quarter have “basic skills” enabling them to repeat information verbatim from a pamphlet.  About half have “intermediate skills” allowing them to figure out when to take their medicine.  Only 10% have “proficient” skills; a level required for understanding consent forms.

Why is genomic information more difficult to understand?  Both patients and their physicians have limited understanding about inheritance and genetics and misconceptions prevail.  Genetic conditions are perceived as rare, scary and untreatable and associated with physical malformations or unusual features, all powerful triggers of negative emotions.  This stereotype is evident by entering the term “genetic disease” into Google Images.  The first image to appear is this one of a child with progeria, a premature aging disorder that occurs 1 in 4 to 8 million births; an extremely rare condition even by clinical genetics standards!

Why is information important? Accurate information helps people adjust to an uncertain future, communicate better with health professionals and cope with the emotional impact of the diagnosis.  Mothers are especially avid users of the internet.  When 100 parents of children evaluated in the UNC Pediatric Genetics and Metabolism Clinic were asked about their sources of information, 83% cited the internet.

What information do parents want? Most were looking for information about their child’s diagnosis and management, to find support, and to learn about recent research news.  But they also wanted to prepare for an upcoming clinic visit, find out what to expect and learn which questions to ask.  Doing their internet homework before the visit improved their understanding of the condition, making them better advocates for their child.

Who searched? Searchers had a history of relying on the internet for answering other kinds of questions.  A mother’s educational level, but not her ethnicity, was a critical factor in internet use.  Having a name for the condition increased parents’ success in finding at least some information.

Who didn’t? The minority who didn’t search didn’t think the internet would answer their questions, weren’t worried, or lacked searching skills.  And 14% who didn’t search themselves still received internet information from their families, friends, and co-workers.

Answers were hard to find. Parents of children with genetic conditions face multiple barriers to finding answers to their questions.  Many lacked searching skills required to find rare information.  Beginning a search by using a general term retrieved an overwhelming amount of information that was neither helpful nor understandable.  Parents discovered that one term can apply to many different conditions and that one condition can have several different names.  Simply learning how to spell the name of the condition proved to be a big hurdle.

The dangers of the internet.  Parents said that health professionals warned them against using the internet but this advice was both unrealistic and misguided.  While the family who began their search immediately after their baby’s delivery was an extreme case, parents were grateful for internet access even when the information they found was neither relevant nor understandable.  The simple act of searching seemed to fulfill a basic parental need and the internet was just the most convenient tool.

Direct to Consumer Genetic Testing.  The number and types of genomic tests have greatly expanded and currently stands at 2267.   As more tests are marketed directly to consumers, the potential pool of people receiving genetic information is increasing.  Few tools are available to help them understand what the information means.  According to a survey of 29 companies’ web sites selling DNA testing for 255 conditions, the information about testing, including the benefits and limitations, was written at the 15th grade reading level, at least seven grades above the average reading level of the US population.  Only 14-28% of sites provided contact information consumers who had questions either before or after testing respectively.  Many have criticized DTC testing for routinely recommending lifestyle changes based upon results that lack both clinical validity and clinical utility.

Genomic advances, more information: Genomic health literacy is becoming an increasingly urgent requirement as the amount and complexity of genomic information continues to expand and spreads to a much wider proportion of the population.  Genomic illiteracy disproportionately affects minorities and those with lower incomes and threatens to worsen health disparities.  Health professionals should stop warning against internet use and start helping to make information more easily accessible and understandable so it can be used to improve the population’s health.


12 Responses to “Genomic Health Literacy”

  1. Wendell said

    Great Post!

    Do you find that most partents are more trusting of the information found on the internet, with regard genetic conditions, more so than their physician?

    It appears more people are trying alternative therapies based on information found on the internet and their genetic makeup. Although some alternative therapies work effectively, others have not been validated. Moreover, some of these alternative therapies are not recommend by physicians and may pose risks to a patient.


  2. Myra I. Roche said

    Thanks for your comment, Wendell. We found that some people in our study distrusted the information from the internet and totally dismissed it especially if it was too negative and not reflective of what they were seeing in their child. Most, however, saw the internet as one convenient source of information but continued to seek out other opinions. I think, in general, people are getting less willing to wait until a scientifically appropriate threshold is met before adopting something whether it be information or a “treatment”.

  3. Sonia Guarda said

    Very interesting.

    My question is how are health care providers addressing this issue. Do they direct patients to specific websites, that will give them reliable information? I think, especially in genetics, websites that explain basic genetics would be helpful to those without much education or even without a science background. Shouldn’t health care providers also “warn” patients of some of the information they may find?



    • Myra I. Roche said

      Yes, it is standard practice for professionals to “warn” patients about the internet but too often this translates to just advising them not to use it at all. We found that parents ignored that warning but then were reluctant to tell the health professional what they found. A better approach would be for the health care provider to proactively ask about internet use so to give them the opportunity to correct misconceptions and steer patients to more credible and/or useful sites. The vast majority of the participants in our study took internet information with a big grain of salt.

      There are a lot of “basic genetics” sites out there but I am not convinced they are heavily read except by people who have fairly high health literacy.

  4. Myra I. Roche said

    Is there potential harm in providing genetic information (e.g. the results of genetic testing) to people who can’t understand it? As we begin testing whole exomes, this will include a greater segment of the population. Should we start screening people before they have genetic testing to determine their potential for understanding the results?


    • Marsha Michie said

      Myra, I agree that we should be concerned about offering whole exome or whole genome sequencing to people who can’t understand the results – but should we be more concerned about that than about the problem of health literacy more generally? If it is a struggle for a third or more of patients to figure out when to take their medicine, then we have a much bigger problem. I’m not sure it will be that much more troubling for them to receive genetic results that they cannot understand than to receive any other kind of medical information that they equally cannot understand. Possibly the situation for genetics has an even brighter outlook because there are actually these magical beings called “genetic counselors” who help people understand this information? 🙂 It seems that in a broader sense we need “health counselors” to help patients/parents understand the constantly changing world of medical treatment, in which genetic information is and will be increasingly integrated.

  5. Martha K. said

    Great article!

    Your comments about trusting information on the internet have me thinking of two particular issues: community aspects of online searches and misinformation. When people enter into online relationships with others centered around their own or their children’s conditions, these communities can be quite buffering and consoling. At the same time, it seems as though they could be new avenues of extended misinformation about the condition. What happens when many patients with low health literacy begin interacting in an online community? Potential positives and negatives in this scenario? Further, the misinformation or misguided advice on any condition (genetic or otherwise!) floating around on the internet can be a scary thing. Because some of that misinformation is spread, discussed, or offered in less formal (ie. non-academic) settings, it is potentially easier to understand.

    “Is there potential harm in providing genetic information (e.g. the results of genetic testing) to people who can’t understand it?”

    I think this is a great question and I wonder if it would help to ponder it by removing the word “genetic” and replacing it with “medical.” In other words, as complex as genetics can be, I imagine that a large percentage of the population does not deeply understand ANY medical diagnosis. Does this simply make health literacy in the realm of genetics doubly difficult, and/or are there lessons we could take from health education in other areas?

    • Myra I. Roche said

      One of the unique things about clinical genetics is that there is an emphasis on the need for people to understand the cause of the problem. In most of medicine, patients are not expected to try to understand, say, the cause of their diabetes, except to understand that they have a sluggish pancreas or that their cells have become non-responsive to insulin. In my opinion, this emphasis on emphasizing the underlying etiology of genetic disorders comes from three sources. One is, historically, there have been fewer effective treatments for genetic conditions, although that is quickly changing. One doesn’t need to dwell on etiology if there is an effective fix. Another component is that the etiology is directly related to the recurrence risk; the chance of someone else in the family having the same condition, which is unique to genetic disorders. The information has implications for others. A third component is that genetic counseling had its beginnings in prenatal counseling where people needed to make as informed a choice as possible about whether or not to have diagnostic fetal testing, not so much to decide about the genetic test per se, but because of the enormous implications of the results on pregnancy decisions. (This is also why genetic counseling evolved from a non-directive approach.) To make an informed decision about prenatal testing, one needs to understand the risks and benefits and to do that requires a different level of understanding. I have been recently questioning in my own mind if this approach can possibly be sustained with the advent of whole exome sequencing; testing that has the potential of providing more information than almost anyone will be able to understand. Or is it OK if some people just get the “gist” of the information like with all other branches of medicine.

  6. Karey said

    I am all for the patient being proactive about researching information concerning certain genetic conditions. However, as you stated, I am troubled that a lot of the information that they will find is either incorrect or outdated. Your blog highlights the need for genetics researchers and professionals to draft understandable materials for parents to refer to when trying to make tough medical decisions. These materials can be in hard copy form and also located on a easily navigable website. Additionally, these materials should be made available in many different community venues so that minorities, and lower income individuals will have access to them.

  7. Janell said

    I’m shocked at how few people in your study are able to correctly write their name and birthday on a health insurance form (68.4%). Knowing that, it seems like we should target genetic education at specific groups, such as doctors, parents and other care givers, and families with a history of a genetic disease. These groups would be the most interested and thus self-motivated to learn more about genetics. Better educated general practitioners can work with their patients and teach them genetics alongside the other traditional clinical information. Specialists can continue that education with a focus on their area of practice. Also, since searching the internet is such a prevalent practice perhaps instead of telling patients not to use the internet physicians could guide patients to specific websites. This could then serve to fulfill the basic need to search for information and allow patients to explore the material at their own pace. Hopefully that could then help to bring us full circle and patients would have more, and specific, questions about genetics at their next doctor’s appointment.

    • Myra I. Roche said

      The negative effects of low health literacy were from the NAAL study of adult health literacy. We did not specifically assess health literacy in our study.

  8. Debra Skinner said

    I see an article in this discussion….Debra Skinner

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