It’s not enough to teach genetics, says Michael Dougherty, director of education for the American Society for Human Genetics.  It has to be taught in the right way.

“Current teaching practices may be producing a public that is unprepared to participate effectively as medical consumers in a world where personalized medicine will rely increasingly on genetic testing, risk assessment, predispositions, and ranges of treatment options that include biological and behavioral components,” writes Dougherty in an opinion piece published online today in the American Journal of Human Genetics.

Dougherty calls for curriculum reform at all levels, from middle school all the way up through undergraduate education. The key, he says, is for students to understand that the genetics of most human traits and conditions are complex and, with only rare exceptions, not deterministic.

Dougherty suggests a new genetics curriculum that begins with lessons on traits that show continuous variation, such as height and weight, and focuses on how multiple inherited and environmental factors can affect these traits.  Teachers could then move on to discussions of genes and the molecular details of how they are passed from generation to generation.  Only here, in the later stages of their genetics education, would students learn about the rare single gene diseases, such as cystic fibrosis and PKU, that make up the bulk of today’s genetics lessons.

“Our incompleteness of understanding and the messiness of complex-trait examples are poor arguments for maintaining the status quo in our genetics classrooms.  We know on theoretical grounds that the entirety of phenotype is defined by genes and environment, and substantial uncertainty still characterizes both.  To pretend such uncertainty does not exist is to deprive students of an appreciation of both modern genetics and the nature of science.”

Dougherty points to the Genes, Environment and Human Behavior module, funded by the Department of Energy and available from BSCS, as an example of the kind of lesson that could help correct the misconceptions that students already have.  The National Human Genome Research Institute also has available a Human Genetic Variation curriculum supplement.  And of course, you can always check out the Genetics 101 section of the 23andMe website for a basic introduction to genetics.

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For many people, the first and last place they will ever study genetics is high school biology class. So it is crucial that these classes prepare people to deal with the barrage of genetic advancements that are increasingly impacting everyday life.

Unfortunately, many high school biology courses are not doing such a good job of communicating the fundamentals of genetics, according to an analysis by researchers from the American Society for Human Genetics (ASHG).

For three years now the ASHG, along with several partners, has sponsored the Annual National DNA Day Essay Contest. The contest challenges high school students to examine, question, and reflect on the important concepts of genetics. Shortly before DNA Day 2008, researchers used a selection of these essays from previous years to see where students might be going wrong. Their results were published in the journal Genetics.

Several themes emerged from the authors’ analysis. Most striking were the students’ lack of understanding of the limits to genetic engineering and their belief that single genes always determine traits and diseases.

The researchers attributed students’ misconceptions to “genohype” in media coverage of scientific discoveries, science curriculum standards that lack depth, and even the undergraduate biology education teachers receive.

Students often equated the identification of a disease-associated gene with “curing” a disease through gene replacement. A disturbing number of students thought genetic engineering could be used to “improve” and “design” their offspring, with the goal of having a “perfect” child.

Some students even suggested that genetic engineering would allow scientists to put a gene from one species into another in order to get a specific trait. For example:

“We could eliminate all the premature deaths of people dying around the world from thirst if we genetically modified people to inherit some of the characteristics of the camel, allowing them to go for months at a time without drinking water.”

The rules of the DNA Day Essay contest require teachers to submit the top three essays for each question from their students. The fact that so many essays were from students with serious misunderstandings suggested to the ASHG researchers that the teachers themselves may not be receiving very good undergraduate training in genetics, and that their unchallenged misconceptions are being passed on.

Like many before them, the authors of the ASHG study suggest that partnerships between scientists and educators will be valuable in improving genetics education. They propose shifting instruction from the simple Mendelian view of inheritance to a more nuanced perspective that takes into account multiple genetic and non-genetic contributions to traits and diseases, with a focus on concepts over content. But, they concede, this type of change is impeded by the need for districts and states to demonstrate content knowledge on standardized tests.

“Until significant research is performed by scientists and their educator colleagues that demonstrates which methods adequately teach both content and concepts, schools systems are unlikely to change their methods,” the authors write.


Some resources for genetics education:

• 23andMe’s own Genetics 101
• University of Utah Genetic Science Learning Center
• Dolan DNA Learning Center at Cold Spring Harbor

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The American Society for Human Genetics (ASHG) has released a statement outlining a set of recommendations for genetic ancestry testing.

At a press briefing on Thursday, members of the ASHG Ancestry Testing Task Force Committee discussed two main themes: the need for clear communication about the limitations of genetic ancestry testing, and the need for researchers and companies doing this type of testing to engage with the social sciences to put results in context.

Michael Bamshad of the University of Washington School of Medicine discussed at length the need for people to understand that ancestry assignments based on genetics are inherently uncertain and can be affected by several factors, including the reference populations used in the analysis, the type and number of genetic markers analyzed, and the statistical methods employed.

ASHG president Aravinda Chakravarti further emphasized that questions about the “accuracy” of genetic ancestry testing are aimed at the interpretation of the genetic data, not at the actual DNA analysis.

Task force co-chair Charmaine Royal of the Duke University Institute for Genome Sciences and Policy addressed the committee’s concerns about the psychological impacts of genetic ancestry testing, especially as related to issues of identity.

23andMe Senior Director of Research Dr. Joanna Mountain had a chance to talk with some of the members of the ASHG Ancestry Testing Task force about their statement.

“Members of the panel emphasized to me that their primary goal was to raise a set of concerns around identification of ancestry through genetics,” said Mountain.

“Because several of us at 23andMe were previously aware of these concerns, we developed our ancestry features with those concerns in mind. For instance, we consider a large number of markers for all the chromosomes of the human genome, including the mitochondrial genome. We also avoid being overly precise in reporting an individual’s ancestry. And we are currently creating educational tools to help our customers understand how genetic information can be informative about ancestry.”

The speakers stressed several times that their statement was not aimed just at consumer companies offering genetic ancestry testing, but also at academic researchers in the field.

Unfortunately, Mountain said, the ASHG guidelines leave out some of the potential benefits of ancestry genetic testing.

“For instance, ASHG President-Elect Ed McCabe encouraged the audience to ask their family elders about family history over Thanksgiving, as an alternative to learning about ancestry through genetics. But individuals who have signed up for 23andMe’s service may find themselves far more motivated to discuss family history than they would before seeing their genetic data.”

For a more thorough analysis from a genetic genealogist’s point of view, click here.

McCabe said the statement released this week is a preliminary document. The committee expects to issue a more detailed report in Spring 2009.

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When I was 12 years old I did my first Punnett square and decided that genetics was absolutely, most definitely the coolest thing ever.

When I was 13 years old they started the Human Genome Project. The task of sequencing all three billion base pairs in a person’s genome was the most enormous project I could imagine. And I didn’t even understand you had to cover the whole thing more than once to do it right.

I was just finishing my first year of graduate school when HGP leaders and President Clinton announced the working draft of the human genome.

Now I’m 31 and I’ve actually seen my own genetic data through 23andMe.

The totally mind blowing-ness of how quickly things have changed hit me today as I listened to two talks at the ASHG meeting in Philadelphia.

First, there was Jun Wang from the Beijing Genomics Institute. He and his colleagues recently published the first full genome sequence of an Asian individual. The numbers and statistics that he presented were all very impressive, but what struck me most were his descriptions of the logic behind two of his other endeavors, the Tree of Life project that is sequencing various crops and the Giant Panda Project: “Taste good, sequence it” and “Look cute, sequence it.”

Obviously there are good scientific reasons for both of these projects. But can you believe we live in a time where you literally could just sequence something’s genome because it was tasty or cuddly?!

The second talk that really drove home for me what a special genetic era we have entered into was by David Altschuler on behalf of the 1000 Genomes Project. This multi-national public/private endeavor is going to do exactly what its name suggests – targeted sequencing of 1000 peoples’ genomes to create the most complete catalogue of human variation ever.

The implications of the project are huge. But for me, a biologist who vaguely remembers that there was a time when people did science without much computer power or the internet, the craziest thing was when Altschuler put the sheer amount of data the project is producing into perspective: each week in September and October of this year the 1000 Genomes Project created the equivalent of all the data in GenBank. Each week! In 2009 the 1000 Genomes project expects to create 1 petabyte (1,000,000,000,000,000 bytes) of data. For comparison Altschuler said that the Large Hadron Collider, which is expected to create 15 petabyes per year, has had to set up a system of 140 data centers in 33 countries.

Maybe you already know all this and aren’t that impressed anymore. Maybe you’re more concerned with what these and other researchers are actually going to do with all of this sequence data. But for just a second, I want you to think about how cool this all this. What other branch of science has ever moved so fast? One of the guys who discovered the structure of DNA is still around and has had his whole genome sequenced. And someday soon, you may have yours sequenced as well.

Photo: U.S. Department of Energy Genome Programs

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The pace of human genetic research shows no signs of slowing. SNP chip technology is allowing researchers to make connections between DNA and disease in ways that were never before possible. Fast, cheap whole genome sequencing, and the avalanche of data it will bring, is just around the corner. And for the first time ever, everyday people can now access their own genetic data and find out what this all means for them.

There has been concern that consumers are not ready for, and may not even want to know about, their genetic data. Several presentations on Wednesday in Philadelphia at the American Society for Human Genetics meeting, however, indicated that not only are people interested in finding out more about their genetics, they are not nearly as frightened by or naïve about genetics as many have thought.

Throughout the talks, the theme of “information seekers” emerged. It seems many people want to know about themselves and are excited about the new genetic technologies becoming available.

Colleen McBride of The National Human Genome Research Institute started off a morning session entitled “Shaping the Future of Personalized Genetic Information – Today” by describing the Multiplex Initiative, a large, multi-year project that is offering genetic testing to a diverse set of patients from the Henry Ford Health System in Detroit. The aim of the project is to assess whether there are people who are really interested in this type of testing, who these people are and how they understand and respond to this information. The recruitment phase of the project, which offers testing for SNPs related to 15 different diseases and conditions, has just been completed. Approximately 14% of the patients given the opportunity to participate in the project accepted.

McBride said that phone interviews with participants have revealed that they understand the type of information they are receiving indicates only moderate increases in risk. People also seem to be far less deterministic in their thinking about genetics than many have worried. For seven selected conditions people rated behavior as far more important than genetics in determining risk. This was especially so with regard to lung cancer.

McBride was followed by Bob Green from Boston University, who talked about the impact and utility of personalized genomic information in the context of the REVEAL study, which is exploring the social and ethical implications of APOE testing for Alzheimer’s disease.

According to Green, about 25% of the population has one copy of a version of the APOE gene called E4 that puts them at around three times the risk of developing Alzheimer’s disease as someone who has no copies of this variant. The 2% of the population with two copies of this variant have risk that is increased by around 15 times.

Several expert panels have recommended that people not be given information on their APOE E4 status. But Green said his group chose to pursue their research to really find out if this information would be “beneficial or toxic,” as it may one day be useful to know about APOE for research or treatment decisions. He added that there is also the need to know how to respond to people who have a family history of Alzheimer’s in their family and want to know what their own DNA has in store for them.

“It’s patronizing to say we can give the info but we’re not going to,” Green said.

Green’s group found that people who met with a counselor and received their APOE E4 genetic data in addition to a risk assessment based on other factors had the same amount of anxiety or depression as those who received only the risk assessment. In another protocol where people who met with a counselor were compared to subjects who received their results in a mailed brochure, his study also found very little difference in anxiety level. People who found out they were APOE E4 positive and were given only the brochure exhibited slightly increased anxiety six weeks after receiving their results, but not at a level that would be considered clinically significant, Green said.

According to Green, no matter what the genetic results, subjects were glad they had done the test and would recommend it to others. The most dissatisfied subjects in the study were those who were randomized to the group that did not receive genetic information.

The final speaker at the session was Kathy Hudson of Genetics and Public Policy Center at Johns Hopkins. Her group is investigating how people react to the idea of a large study to investigate the interactions of genes, environment and lifestyle. The theoretical study would recruit 500,000 people who would be followed for a decade. Biological samples would be collected and genetic information would be stored in a centralized database that would then be available to researchers.

Hudson focused her presentation on the question of whether people want to receive their own information back from the study, a practice that is at odds with traditional methods of research. While there were some people who felt they would rather just not know, a commitment from researchers to return results to individual volunteers was a major factor for many people in saying they would participate in such project, even if there was not immediate usefulness of the information.

David Kaufman, the leader of the study Hudson described, spoke in a session later in the day. He presented results showing 84 percent of those surveyed said they would support the proposed large cohort study and 60 percent indicated they would definitely or probably participate in such a study if asked.

Hudson said these results indicate researchers need to rethink their ideas about severing the link between subjects and their data, and reevaluate if their methods really are protecting subjects.

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