Although sensationalized, television's Dr. Gregory House is the embodiment of how medicine is currently practiced. After visiting with the patient to collect information about family history and symptoms, House and his team gather to generate a list of all possible causes and, through blood work and x-rays, weed out the wrong diagnoses until only one is left.
House always gets it right.
In reality, the practice of medicine is expensive and doesn't fit in the one-hour time frame Hollywood portrays. Those "weeding out" tests can only eliminate one diagnosis at a time.
Questioning and family history can narrow down the vast number of tests that help a doctor arrive at the correct diagnosis, explained Leslie Biesecker, M.D., chief of the National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the information gathered upfront, there are a huge number of tests to consider, and many tests may still be needed.
How to solve this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to confront the challenges of cost and time in today's practice. It can reduce the need to gather much of the patient's information upfront in an effort to decide which genetic test or panel to order.
"Having a patient's genome changes the paradigm of how medicine is currently practiced because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker.
The genome is a resource that doctors can use - and re-use - to answer many different questions depending on their patient's situation. And much like what Dr. House represents to his team of experts, the genome can call attention to an otherwise missed diagnosis or gene variant that alerts the doctor whether one ultrasound or another is the most appropriate test.
But this new way of practicing is not without its challenges. With more genomic advances in the medical arena comes a wider gap in training scientists and physicians on how to use that information to harness the genome's power.
To address this challenge, NHGRI is funding new grants - the Institutional Training Grant Program in Genomic Medicine - to cultivate leaders in the field of genomic medicine. The five-year grants, totaling approximately $3.5 million, have been awarded to a partnership between The University of Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology; The University of Utah in Salt Lake City; and Vanderbilt University in Nashville, Tennessee.
"These programs will address the growing needs to formally train scientists and physicians in the underpinnings of genomic medicine," said Heather Junkins, M.S., a program director in the Division of Genomic Medicine at NHGRI. "The training grants are novel in the fact that M.D.s and Ph.D.s will train together."
The three training programs share the common goal of tackling the challenges that arise in genomic medicine, and specifically focus on the bioinformatics approaches to adapting to the big data boom in genomics.
"It's not much of a challenge to sequence a genome anymore," said Utah's Lynn Jorde, Ph.D. "The biggest challenge now is interpreting the genomic information that we're able to generate."
Genomic information is the billions of base pairs that form the blueprint for every characteristic - and disease - that define a person. But for health care professionals that are not trained to write computer code or work with vast amounts of data, the clinical value of using genomic data can be dampened.
"We want the trainees to start being comfortable with genomic datasets," Ms. Junkins said. "We want them to get in there and start touching patient data."
Through new sequencing technologies, data is accumulating in an unprecedented way. And the burgeoning data is being matched by the creation of more sophisticated bioinformatics tools and programs.
But it's not just genomic data that's snowballing.
"Phenotypic data, drug interaction data, family history data. Making sense of that data is a huge challenge," Dr. Biesecker said. "The key is to teach physicians to effectively use the new tools to tackle big data."
Through a mix of coursework, clinical exposure and mentoring, the two-year training programs will teach practical skills for applying computational tools to disease-gene discovery, patient genome interpretation and big data management in research and clinical settings. They will also prepare fellows to deal with the ethical, legal and social implications of genomic medicine.
"The grant allows us to offer an in-depth research experience ... and provides infrastructure for educational components to fill gaps that are not easily acquired either at the bench or the bedside," said UAB's Bruce Korf, M.D., Ph.D.
But how do we make sure that using genome sequencing for disease diagnosis, treatment and prevention becomes common practice at our hospitals nationwide?
"Training grants like this are what will drive the infiltration," said HudsonAlpha's Greg Barsh, M.D., Ph.D., who shares the grant with Dr. Korf. "It's a requisite for bringing genomic medicine into common practice."
Vanderbilt's Kevin Johnson, M.D., said because of NHGRI's commitment to funding training programs like this, using genomic medicine in practice will one day be no different than preventative medicine.
"Future generations will never know any world where it wasn't like this," he said.
The following grants have been awarded: T32 HG008961 (University of Alabama-HudsonAlpha); T32 HG008962 (University of Utah); and T32 HG008341 (Vanderbilt University).
Last Updated: September 6, 2016