Moving beyond the basics: Teaching the genetics of complex traits

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					                         GENOMICS IN PA PRACTICE
                                                     MI C HA EL J. DO U G HERT Y, PhD

                          Moving beyond the basics: Teaching
                          the genetics of complex traits
                                                                                               ›EDUCATING PATIENTS
        ou enter the examination room,                Traditional genetics instruction is
        where a 28-year-old man waits               built on the conceptual framework          The specific genetics information
        anxiously. “Should I be wor-                of Mendelian inheritance, meiosis,         patients need in order to make educated
ried about this mutation? Am I going                and gene expression—often in that          choices and provide informed consent is
to get prostate cancer?” Your patient               sequence, which tracks the history         unclear, but as a clinician, you must be
is holding the results from a personal              of discovery in genetics. All these        prepared to translate that information
genetic test that he ordered from a                 are necessary concepts for complete        at an appropriate level. Researchers in
direct-to-consumer testing company.                 understanding, but they are not suf-       genetics education are investigating vari-
How should you respond?1 What his-                  ficient to meet the needs of modern         ous learning models to determine the
tory do you need to gather?                         genetic literacy or health care. Genetic   most effective content and instructional
   What if a female patient mentions                testing has rapidly expanded beyond        methods. What is clear, however, is that
that her mother has had colon polyps                the detection of individual diagnostic     public understanding is well below even
removed? How would you determine
whether your patient is at risk for
familial adenomatous polyposis, a                   “The American Society of Human Genetics is
dominant Mendelian disorder? Should
you order a genetic test? Is there other            supporting a curricular approach that teaches
information you need first?
   Or consider an African-American
                                                    students the complex traits first.”
patient with high BP. Is the patient’s
race relevant to considerations of                  or predictive mutations for single-gene    minimum thresholds required to under-
drug metabolism—making some drug                    disorders to include screening for         stand a genetics-based clinical encounter.
choices better than others—or is race               thousands of genetic variants associ-      Many adults in the United States have
a poor proxy for genetics?2                         ated (often very weakly) with com-         a “conversational familiarity” with
                                                    mon complex diseases. With time,           such terms as genes and genetics but an
›THE SCIENCE OF WHOLE                               evidence for those associations will       inability to explain them adequately, and
GENOMES                                             grow stronger and their clinical util-     many lack the understanding necessary
Increasingly, medical discoveries and               ity will improve, requiring changes in     to cope with the concepts of genetic
their applications to health care (eg,              practice standards.                        testing.5,6
diagnosis, prognosis, treatment, and                   The proposed core competencies in         We also know that among high
prediction of future risk) will have                genetics and genomics recommend that       school students, misconceptions are
their roots in genomics, the science of             PAs understand Mendelian inheritance       common and involve genetic de-
whole genomes. Genomics extends                     and different modes of non-Mendelian       terminism, patterns of inheritance,
beyond the genetics that is commonly                inheritance—for example, as when mul-      and the nature of the substances
taught in programs that educate health              tiple genes and environmental factors      that comprise genetic material.7 The
care providers, including PAs. This                 contribute to complex diseases, such       National Assessment of Educational
presents challenges at two levels: Your             as heart disease, hypertension, and        Progress reveals that more than 50%
ability to respond appropriately, and               cancer.3 However, learning the basics      of 12th graders have an unsatisfac-
your patients’ ability to understand                in a classroom is not enough. If the       tory understanding of such founda-
and benefit from your advice. There is               practice of medicine is to be informed     tional concepts as genes, mutations,
reason for concern at both levels.                  by genetics, health professionals must     and genetic disease.8 Because only
                                                    learn to apply what they know about        one-third of US adults have a bach-
                                                    inheritance of disease in their clinical   elor’s degree, we can assume that the
Michael Dougherty is Director of Education,         training. This goal is complicated by      average patient has the equivalent of
The American Society of Human Genetics,
Bethesda, Maryland. The author has indicated no
                                                    a crowded curriculum, insufficient          a high school student’s (inadequate)
relationships to disclose relating to the content   numbers of genetics professionals, and     knowledge of genetics.
of this article.                                    myriad other challenges.4                  Continued on page 66

                                                                               • MAY 2010 • 23(5) • JAAPA      65
›CLOSING THE                                                                                                                                  What differences should you              ›IMPROVED PATIENT CARE
EDUCATIONAL GAP                                                                                                                            expect to see in the clinic when            The hypothetical patients described at
What can be done to bridge the divide                                                                                                      viewing disease through the lens of         the beginning of this article illustrate
between essential genetics literacy and                                                                                                    genomics versus the traditional lens        just some of the challenges that geno-
the status quo for providers and the                                                                                                       of genetics? Several programs from          mics will present to PAs. Although pro-
public? A new conceptual framework                                                                                                         the National Coalition for Health           fessional training and public education
and curriculum are needed. St
Description: The reason is that most of the genes contributing to complex disease confer only small increases in risk, and disease manifests only above certain thresholds. [...] the environment contributes more substantially to complex disease than to Mendelian disease.
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