KNOWLEDGE, SKILL SETS, AND TRAINING OPPORTUNITIES

What are the necessary knowledge and skill sets required for analyzing, interpreting, and using genomic information? The first principle Korf posited was that education and training should focus on competencies, not knowledge. The important issue should be what clinicians are able to do, not necessarily what they know.

Much of the accumulated knowledge concerning health care will be embedded into point-of-care decision-analysis tools associated with electronic medical records, Korf said. When pharmacogenetic testing is routine, clinicians will not order pharmacogenetic tests and wait for the results to decide on a drug and dosage. Instead, some sort of electronic prescribing system will search a database, find a patient's pharmacogenetic results, and recommend the proper drug and dosage to use. Clinicians will still need to know about pharmacogenetics, but the skills they will need will be different. For example, they might need to explain to a patient why he or she is taking a drug and dosage that differ from what someone else is taking.

Given this background, the kinds of competencies that a non-specialist health provider might be expected to have will include the ability to explain the concept of carrier status and to provide a referral to a genetic counselor for additional information. He or she would also need to recognize and order tests when there are indications that the diagnosis would benefit from the use of genomic sequencing and be able to use pharmacogenetic data for guiding therapies. Other necessary competencies will include using sequencing data to formulate an individualized disease management plan and improving differential diagnoses.

Laboratory geneticists would need a somewhat different set of competencies, Korf said. These will include proficiency in the use of bioinformatics tools and databases to interpret whole-genome sequencing results and the ability to annotate genomic data in the context of phenotypic information. The laboratory scientist would also need to provide clinicians with tools and genomic data interpretation that would guide clinical decision making. These lists, Korf said, provide a starting point for thinking about the competencies that different health care providers should have.

Health care competencies for genomic medicine will need to extend from pre-health professionals to the health professions. Undergraduates will need to be attracted to the field and be better prepared for their chosen health care careers by learning about subjects that they will need in the future, said Korf. In addition, genetics and genomics should be integrated into health professional education, residencies, and maintenance of certification, Korf said.

Korf described a recent effort organized by the Howard Hughes Medical Institute and the American Association of Medical Colleges in 2009 to develop descriptions of competencies for medical education. The competency for genetics was: “Use the principles of genetic transformation, molecular biology of the human genome, and population genetics to infer and calculate risk of disease, to institute an action plan to mitigate this risk, to obtain and interpret family history and ancestry data, to order genetic tests, to guide therapeutic decision making, and to assess patient risk.” Even this competency, Korf noted, has become somewhat outdated over the course of several years because of rapid advances in genomics, but it makes the point that competencies and learning objectives can be defined.

Korf also described the Summer Genetics Scholars Program, which is sponsored by the American College of Medical Genetics Foundation and is designed to attract more students into the discipline. “Students … have a huge interest in this area, and it has not been difficult to motivate medical students to be thinking about genetics whether as a primary career or as a critical [area] that will integrate into their careers.”

The University of Alabama at Birmingham has been pursuing a personalized health care competencies project, which is divided into the areas of genomics, pharmacogenetics, informatics, and culture and the environment. Competencies have been defined for undergraduates with the goals of helping them make better health care decisions and attracting some of them into health care careers. These same competencies can be re-purposed for other audiences, such as business, law, or engineering students. For example, a business student could learn how to make the case for using genomic data in a medical practice.

A GENERATION OF EFFORT

At the University of Alabama at Birmingham, Korf's department runs a laboratory that performs diagnostic testing for neurofibromatosis type 1. Even after testing more than 5,000 people over the course of 8 years, the laboratory frequently identifies previously unseen mutations. The clinical impact of many of these mutations is uncertain and would require a considerable amount of investigation to determine. Yet this is just one gene. “We are going to need a lot more work before we can define phenotypes just by looking at genotypes,” Korf said. It will take “a generation of effort” to understand the many nuances written into the human genome.

Collaborative partnerships will be essential, Korf said, but many of these will not be straightforward. For example, questions of referral can be complex and difficult. Pediatricians, for example, will soon be learning of conditions diagnosed in newborns that they have never heard of before. They will need point-of-care decision support, which eventually will need to be fully integrated into electronic records.

Korf argued that the model of one health professional sitting in a room talking with a patient about one gene will be disrupted by advances in sequencing technologies. Though consumer-driven genetic testing is not very powerful now, it could become a disruptive technology (Christensen, 1997). As the data improve, such testing could become much more mainstream. “I don't know that consumer genomics is the answer,” Korf said, “but I think there has to be an answer that is going to make it possible to provide the information, and it is going to have to be more than just looking something up on a website.”

Creative thinking will be essential as health care is transformed by technology. As computer scientist Alan Kay once said, the best way to predict the future is to invent it. Whether the future is evolutionary or revolutionary, Korf said, “this is … the opportunity that we all have before us right now.”