Limitless Possibilities
Hulick is optimistic that genetics is quickly moving from the background of medicine into the spotlight, and that a growing awareness, interest, and demand on the part of patients could propel the field further faster.
His Neaman Center for Personalized Medicine recently held an informational event that drew more people than expected. “People were engaged in it; they wanted the information.”
Seeley notes that the population is becoming more aware of how genetics impacts their health and their lives. They are doing their own research, forming social network groups to exchange information, and communicating with each other to discuss research.
“The awareness [of patients] is really helpful,” Seeley says. “There are a majority of referrals that are patient initiated versus physician initiated.”
Also helpful in propelling genetics into the public eye is the faster turnaround time for results and the lowering costs of tests.
“When I started my pediatric and genetics training, we were just starting to be able to offer exome sequencing, and the turnaround time was close to six months,” Seeley says. Now, she can get a rapid genome test result in five days. “And the cost has come down dramatically, making it easier to justify to insurance companies.”
An example, says Hulick, is the test for two very common genes — BRCA1 and BRCA2 — which cost about $4,000 per patient if insurance didn’t cover it. However, in the mid-2000s, the new technology and next-generation sequencing technology brought that price down to just a few hundred dollars.
While many genetic tests are still expensive, Hulick notes that they are a cost-effective health measure, as it costs less to discover and treat a condition earlier in life rather than later.
Privacy was another contributing factor in the hesitancy in using genetic testing. Until the Genetic Information Non-Discrimination Act was passed in 2008, patients were concerned that their genetic testing could be used against them by employers and insurance companies.
And an ongoing consideration, says Berry, is ethics — what to do with the information once you have it.
“For example, if a baby tests positive for the BRCA gene mutation, at what point in her life do you tell her? And if someone has the gene for Lou Gehrig’s disease (ALS) that might surface later in life, do you tell them and have them suffer with that knowledge for five decades?”
While some patients might prefer to not know their risk factor, Berry says that “knowledge is power and part of being able to make informed decisions about health.”
Hulick says he hopes the explosion of data, the new understandings of diseases, the ability to treat conditions, and the public’s interest will encourage more medical students to enter the field.
For those who choose to do so, he says, the options are endless.
“One of the beauties of genomics and genetics is that it opens the door to any field; you can run the gamut — be a general geneticist or have more specialized clinics,” Hulick says. Some of those clinics include rare syndromes, oncology, cardiology — even pharmacology, as pain medications have pharmacogenomic implications that can affect recovery and length of stay in the hospital.
Genetics has grown to the point it’s difficult to find an occasion where it doesn’t have an impact on a patient’s care, he says, noting that it is the future of new treatments and cures for all types of diseases, including cancer, multiple sclerosis, sickle cell anemia, and more.
“It could be direct targets for therapies or being better able to predict who may or may not respond to therapies,” Hulick says, explaining that genetics plays a part in who will respond to certain treatments and who will not.
The geneticists agree that genomics is a part of the practice of medicine, and over the next decade, it will be increasingly incorporated into care, especially since the technology is expanding at a rapid rate and the costs are coming down.
The question is whether there will be enough medical geneticists to keep up with the demand.
At Jefferson, Al-Kouatly is doing her part to engage students in the field. She is a passionate mentor to her trainees, some of whom have gone on to pursue maternal-fetal medicine and genetics fellowships at the nation’s top institutions.
She says a key aspect of attracting medical students to the field lies in funding.
“If I had more funding, I could take more medical students under my wing,” she says. “Funding would help me conduct more research, and send more students to conferences.”
She believes that funding residencies and fellowships would be particularly beneficial, as “it is during that time that trainees get the exposure.” In addition, sponsorship for lecture series would also help to bring the field to light for students, particularly lectures tailored to every specialty.
Seeley believes that sparking interest in genetics while students are still in medical school doing rotations is the key to attracting more to the specialty—a specialty she says is very satisfying.
“If you want a field that you can grow with, one that will excite you from the day you start to the day you retire, this is the field,” Hulick says. “When you pick a specialty, it’s easy to get excited about the very unusual patient or case, but you also have to get excited about what’s considered mundane in your field. There’s nothing mundane about genetics.”
Berry calls genetics the future of medicine — one that any physician would find fulfilling.
“If you like to know why things are the way they are and how things happen, if you want to try to cure diseases, if you want to make life better, go into genetics!”
