Alabama is working to be among the leaders in diagnosing rare diseases and Dr. David Bick of
HudsonAlpha’s Institute for Biotechnology is part of the strategy.
Bick, a clinical geneticist and a faculty investigator at HudsonAlpha, sees rare disease patients
at the Smith Family Clinic for Genomic Medicine located on the institute’s Huntsville campus.
Because of his expertise in genomic medicine and more than 20 years of clinical experience
Bick was recently appointed by Gov. Kay Ivey to the newly created Alabama Rare Disease
Council, established by the Alabama Legislature.
“There are a lot of people in Alabama with rare diseases and our purpose is to help our state’s
leaders address those needs,” Bick says of the 10-member council. “We want to improve the
healthcare of the citizens of our state and our leaders want to get expert advice in thinking
He describes it as a diverse council with everyone from healthcare providers to researchers.
“There’s a lot of representation on the council that bring a variety of voices together in a room
if you will. The council is charged with trying to improve our understanding of how to
diagnose and make an impact on these on families dealing with rare diseases.
“If we can collect information on impact and cost and coordinate and collaborate among
different groups as a way to better inform lawmakers about what’s going on we can help
citizens to improve their care and overall health,” he added.
He says the council was established to be a voice for individuals with rare conditions, and
similar council’s are being set up around the country.
It’s also about realization of what genetics testing can provide.
“Being a geneticist, we see people with neurologic or immunologic conditions that while they
may be rare conditions, there are quite a bit (of people) out there with it. There’s a lot of
work being done in Alabama for medicine in general but one thing we tried to emphasize is
rare disease is not so rare,” he says.
For example, he says, Cystic fibrosis affects one in 2,500.
“That doesn’t sound like a very big number but we have all heard of it,” he says. “Take that
across the whole state and it all adds up.”
Another example, he says, is Spinal Muscular Atrophy, a condition that involves spinal cord
cells dying, usually in children but has been seen in adults at about one in 10,000.
“When you add up the numbers, it adds up to big numbers,” Bick says. “If one in 10 Americans
have a rare diseases, that’s about 400,000 in Alabama.”
Patients often arrive a Bick’s office after seeing multiple doctors or specialists who have gone
as far as they can with traditional testing models.
“A neurologist can say to a person who is having trouble walking that their condition has
something with the nerves in the legs,” Bick says. “It may be a peripheral neuropathy and
simple testing shows that but it may be that one of these rare conditions in which the nerves
are not working properly so we do DNA testing and look at the genes to determine the cause.”
For some, there is treatment. For other conditions, there is no treatment but there may be
clinical or pharmaceutical trials in which the patient might be interested in participating in or
Bick says when there are things that are not known from the testing, at least once it is known
what the condition is, the tests show if other family members are at risk for the condition and
if the condition will progress and if so, how it will progress.
“People want to know what will happen to them, for example, if it’s nerves in the legs, could it
also impact other parts of the body? Sometimes it is yes, there are things we have to watch
out for or it may be simply the current symptoms are the only thing they will experience.
Bick says there is “tons” of research going on around rare genetic conditions for people who
have known conditions.
“We study them because we know how to develop a treatment but if we do not know what a
person has, how can we develop new treatments.”
Genetic testing is for those who have little or no family medical history. It’s also for those who
can’t get a diagnosis no matter how many tests or doctors they see.
The first step for genetic testing is to call to the clinic or get a doctor referral. A patient will
talk with a genetics counselor and if records are available from other doctors that have been
seen, they will be reviewed and costs will be discussed.
“After genome testing has been completed, if we can identify a genetic issue we will open up
lines of communication with the physician about the condition and see if we can further
identify the problem. Meanwhile, the doctor can tailor the patient’s care,” Bick says.
He says that of the 20,000 genes in the human genome, about 4,000 to 5,000 of them have
been connected to specific conditions. The remainder can be identified as doing its job or it’s
never been connected to a medical problem. Although there are hundreds of new conditions
figured out each year.
“It gets us to lots of conditions already known and lots of others are being discovered,” Bick
says. “Once we’ve sequenced all the genes of a patient, we can go back every year or couple
of years to see if something new has turned up that would show a connection between a
specific gene and genetic condition.”