In Alaska patients are more likely to find an astronaut than a geneticist. William Oefelein, who piloted the space shuttle Discovery, retired there, but the state of more than 700,000 people does not have a single medical geneticist to call its own.



Instead, patients must wait until one flies in from Oregon around 4000 kilometers away. Six times a year a geneticist or two comes to Alaska and visits a few clinics, seeing about eight patients a day, diagnosing genetic causes for developmental delays such as fragile X syndrome or discussing hereditary cancer risk. If a patient cannot squeeze in for an upcoming visit—and many cannot—or the combination of plane and snow machines (the local name for snowmobiles) fails to get a patient to a clinic in time, then he or she may have to wait another six months for an appointment.



Alaska is not alone. Idaho has no clinical geneticist either. Georgia has only three for its population of almost 10 million. Maine boasts three, so patients in the northernmost tip of that New England state might have to drive seven hours to see one in person.



These “geneticist deserts” are prompting a small but growing tide of virtual patient visits. In an age when virtual chats are relatively commonplace, videoconferencing for genetic consultation—telegenetics —is becoming a logical extension of what people already do with their Webcams and smartphones. Telegenetics saves patients time, the cost and burden of transport and, oftentimes, the need to find day care or take time off from work. For doctors, the approach can expand their reach while limiting travel. Moreover, they can bill for their services as if they were seeing patients in their offices with just a slightly different billing code.



Health experts estimate that one medical geneticist is needed for every 250,000 individuals, and although figures from 2009 suggest that the U.S. was close to reaching that goal, the average clinical geneticist spends less than half of his or her time in direct patient care—significantly slicing that number of available clinician hours, according to data from the American College of Medical Genetics and Genomics (ACMG). It’s not a popular or, in some states, a high-paying specialty. “We don’t have the workforce we need,” says Sylvia Mann, director of the Western States Genetic Services Collaborative. So places with shortages are depending on sporadic visits from out-of-state experts, virtual visits or some combination of the two. Out of 225 genetic experts who responded to a recent ACMG survey, 82 reported that they had used telegenetics—a figure that surprised Mann and other experts. “That’s about 70 more than we expected,” Mann says.



Unlike, say, a gastroenterologist, who may need to feel a patient’s abdomen to deliver an appropriate diagnosis, genetic services are largely based on counseling and visual inspection, making virtual visits an attractive possibility. And as researchers solidify the links between mutations on the human genome and resulting maladies or patient risk it’s increasingly evident how integral information from geneticists can be for making crucial life decisions about family planning and weighing treatment options. Interactions could include evaluating genetic risk for hearing loss or breast cancer or diagnosing a newborn’s developmental delays and putting him or her on an appropriate treatment track. In that vein, Mann is trying to recruit young clinical geneticists and genetics counselors in western and heartland states into a free training program on telegenetics. She hopes that as these professionals climb the ranks they will set up telegenetics offerings.



In Alaska patient need “far outstrips capacity,” says Meg Kurtagh, Genetics Services Program manager for the state. Yet Alaska, which only started offering appointments with medical geneticists from Oregon Health and Science University (OSHU) last summer, is not using telegenetics, largely because of unreliable or slow Internet connectivity, she says. Still, officials are considering how they could overcome that in the future. Idaho is also looking into whether it could make telegenetics a reality. Without a geneticist, when a baby is born with a constellation of symptoms that require a unifying diagnosis or someone wants to talk about other genetic risks, the patient is often out of luck.



Telegenetics is already well established in some locations. Georgia has been employing it since 1995. More than 250 patients in Kansas in the past few years have had virtual appointments with a geneticist in Arkansas, thanks to a program set up by a genetic counselor in Wichita, Kans. (A geneticist is a specialized doctor whereas a genetic counselor is typically someone with a master’s degree that counsels families about their risks for certain conditions and educates about genetic inheritance and testing).



Like so many other professional collaborations, such arrangements often arise from personal relationships—say a genetic counselor used to work with the geneticist, which is the case in the Kansas–Arkansas program. Or one geneticist is bullish on telegenetics and inspires friends in the profession to give it a go.



In most areas all that is required is a strong Internet connection, a camera (preferably with good zoom), computers and willing health personnel, both at a local doctor’s office where the patient would wait with a nurse or genetic counselor and at the location where the geneticist works. For the geneticists and patients, the face-to-face interaction is what is important. The patient looks at a screen that displays the geneticist’s face in real time as well as her own face in the upper corner of the screen—showing her what the geneticist sees. A camera with a zoom lens can help the geneticist look at small patches of skin on the patient and a genetic counselor or nurse who would be in the room with the patient could help him or her get into the right position for optimal viewing, assist with any needed physical inspections or serve as in-person support if the geneticist is sharing upsetting news.



Certainly, the advent of powerful tools that augment remote visual inspections can make such options even more attractive—if they are available and affordable. Bluetooth stethophones allow a physician to remotely listen to a patient’s heartbeat. Digital ophthalmoscopes can help a doctor examine eyes and an otoscope can do likewise for ears. And for young patients, just the opportunity to see themselves on the screen is pretty neat.



Still, many proposed telegenetics projects fall by the wayside—and not always because of lack of equipment, cross-state licensure complications for geneticists or billing obstacles. “People think barriers are technical but another big piece is having the support on both sides,” says Hans Andersson, director of the Hayward Genetics Center at Tulane University School of Medicine. He obtained grant money to buy equipment for eight geneticists in Puerto Rico, Saint Croix, Alabama, Mississippi, Florida, North Carolina, Tennessee and Louisiana. All of that purchased equipment is now gathering dust, in most cases because the geneticist could not find a willing doctor’s office to work with on the other side. Other clinics cannot find a willing geneticist. It all “depends on the local culture” because health professionals are often already overtaxed, Andersson says.



Meeting with a geneticist virtually is not as intimate as an in-person visit nor is it guaranteed to be free from technological glitches, but satisfaction rates of patients who are tapping such services remains high, according to voluntary reports. Rosemarie Smith, a clinical geneticist operating out of Portland, Maine, is the only geneticist in the state offering a telegenetics option. Smith sets aside one day a month to meet with six telegenetics patients that come to a clinic in Caribou, Maine, five hours away by car. That’s on top of the 96 patients she sees in person each month. The interest is growing to snag some of her time, even from afar: She’s already in talks with a second clinic about bringing her services there—virtually.