By CRG staff - interview with Michael Dougherty

Michael Dougherty, PhD, is Director of Education for the American Society of Human Genetics (ASHG).


GeneWatch: What are some of the similarities and differences between the way you would approach teaching genetics concepts to a high school classroom versus the lay public?

Michael Dougherty: Genetics typically gets introduced as inheritance, broadly, in middle school. And for many students who won't be studying it in college, high school might be their last formal genetics education - or even science education - ever. So we look at not only teaching genetics, but teaching the nature of science. We think in terms of big principles of genetics that will help sustain people throughout their lifetimes as genetically literate citizens. Some of those principles are the basis of heredity in DNA, but also emphasizing that while we are learning about how genes influence our health and behaviors, so too does the environment. And we try to help students understand how the environment works through genes to exert its influence, and the very important role that the environment plays.

Those same messages that we're communicating to high school students are messages that we want to communicate to the public-be they current adults who need to have some genetic literacy, or the future public, which essentially are today's high school and college students. The principles don't change; I think what changes is just how relevant it has to be in order to capture their interest. If you're already a working adult who is 15 or 20 years out from your last biology course, you're really only going to take an interest in genetics to the extent that you can see its direct relevance to your life. For many people, that is now - and will increasingly be - the use of genetics and genomics in medicine. So a simple way to introduce people to the importance of inheritance for their health is talking to them about family history.

That starts into another question I had: How do you get the layperson interested in genetics? I suppose that's a different calculation than getting a high school student interested.

You're absolutely right, there's very different thinking that goes into how you program education for those two audiences. For the school audience, obviously the curriculum and the teachers serve as our vehicles for delivering those messages, and those teachers have a pretty heavy stick that they can wield against the students: grades! But by and large what the teachers are teaching, in this era of No Child Left Behind, is the content relevant to the state assessments by which public schools are evaluated. That speaks to one of our efforts in the education policy realm: trying to make sure that the standards being used to develop curriculum and assessments in the states represent the best thinking in genetics. And that has not always been the case, as a big research paper that we published a few years ago demonstrates. In fact, there are grave deficiencies in the comprehensiveness and particular contents being covered by many of the states in their state standards. ASHG is working to try and rectify those deficiencies.

With regard to the public, we don't have any "sticks." It's really the already-interested public that serves as the audience for not only ASHG's messaging, but for the informal science groups, science museums and the like. It's a perennial lament for many of us who think about these things that we usually end up preaching to the choir. It's the people who already have an interest in science who take their kids to the science museum, and for ASHG, many of the people who write to us asking for additional information or who say that they have visited our site are people who are already interested in genetic testing or are coming to us as a function of necessity, having just spoken with a genetic counselor or having had a child with a genetic disorder.

On the other hand, we are not actively promoting personal genetic testing just to get people interested and more knowledgeable about genetics - in fact, quite the contrary. We're skeptical of the lay public's ability to process the information. In fact, we're skeptical - with good reason, and some evidence - that the primary care physician community is going to be able to make sense of personal genetic tests. And they are going to be increasingly faced with patients who bring in a 23andMe report, for example, and say, "Doc, it looks like I've got an increased risk of hypertension. Can you explain these results?" While that can be a motivator for people to learn more about genetics, it's not likely that it's going to be easy for them to find credible resources presenting the content in a format they can reasonably understand, or in a way that's going to satisfy their needs. So we have some concern, in fact, about the proliferation of personal genetic testing and what implications it might have for health providers, as well as for the consumer-slash-patient.

Do you mean specifically direct-to-consumer testing, or also, for example, whole genome sequencing done through a medical provider?

I was referring to direct-to-consumer genetic testing. The companies that offer the testing also offer - sometimes, at least - access to certified genetic counselors, but it's not clear how much uptake there is by the consumers, so we don't know how much information consumers are really getting, or the quality of their understanding.

Within the context of formal medical service delivery, genetic tests are usually ordered with consultation by a genetic counselor, so there's a much greater likelihood that those trained counselors will be able to understand where the patients might have misconceptions about genetics. They have a great deal of experience in communicating that information and helping patients understand what test results mean, whether they are results of a diagnostic nature or results that are provided in a prenatal testing environment with the goal of helping prospective parents make decisions regarding pregnancy.

Going forward-and it's already starting to happen in a limited clinical setting-whole genome and whole exome sequencing will only magnify the educational challenges we face. One of the big issues is going to be simply our limited numbers of experts in medical genetics: the actual doctors that have a specialty in medical genetics, and understand the information that comes back from tests, and also the limited number of genetic counselors. To the extent that we are successful in integrating genetics into medicine - and I think everybody's hopeful for what that's going to mean, eventually, for improvement of health and diagnosis of disease - we're simultaneously going to create a situation where there are simply not enough people with the expertise to talk to the patients to ensure that those patients really understand the whole of the information that they're getting. That's going to be a big educational challenge.

Are there any especially pervasive or common misconceptions that you come across?

Yes, we and others have done research on misconceptions that people have about genetics, and one of the most pervasive is simply genetic determinism. The average person really does treat genetics as something special. If there's an indication in your genes that you might be predisposed to a disease, they have a very difficult time differentiating between "the gene causes this kind of condition" as opposed to "the gene predisposes this condition in a probabilistic way." One of the more dramatic examples is BRCA 1 and BRCA 2 testing, which has obviously had a lot of recent press because of Angelina Jolie revealing that she had tested positive and decided to have a prophylactic mastectomy. People often don't understand that sometimes you can have a gene with a mutation and not necessarily ever get the disease. In the case of BRCA 1 and 2 mutations, the likelihood is much higher - there's a lifetime likelihood of developing breast cancer in the 80% range, which means 20% with the mutation will not get breast cancer. But for many mutations in other genes, the "penetrance" is much lower, such that a majority of people who have the mutation never suffer the disease. That's an issue that people have a very, very hard time understanding.

There is also a general misconception about what genes are and how they differ from mutations. In general, genes direct processes contributing to normal function and behavior; mutations in genes can, but do not always, disrupt function and behavior, which is what leads to disease. However, the disease is caused by the faulty genes, not normal ones. This is often perpetuated by the shorthand that scientists sometimes use and the media propagates. We routinely hear and see references to "genes for cancer" or "genes for autism," when in fact there are no such genes. There are genes that produce proteins or RNAs that contribute to some sort of a normal phenotype that get disrupted when they have certain types of mutations. So that's another aspect of the determinism misconception that really confounds peoples' ability to understand genetics well.

And that's only going to get more difficult. It used to be, when we talked about genetics even just a half-dozen years ago, that we were talking about the genetics of Mendelian traits, single gene mutations which led with very high likelihood - in many cases with near certainty - to development of a genetic disorder. It was just a single gene that could produce that disorder. Now, with testing at a whole exome or whole genome level, or even just genotyping across many genes, we can identify lots and lots of risk alleles for complex traits - diabetes, hypertension, heart disease, cancer, schizophrenia - and all of these disorders are the result of mutations in many genes (along with environmental factors). So trying to parse the impact of any single gene mutation becomes extremely challenging. It's challenging enough for the professionals who are doing the work; for the public, I think it can start to seem hopelessly complex. 

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