Baylor College of Medicine's Arthur Beaudet says he is seeing how genomic testing and sequencing is beginning to have an impact on how physicians approach treating rare disorders.
Beaudet, who has been treating children with rare disorders for 40 years, told MedScape at the recent Future of Genomic Medicine Conference that genetic testing began having an impact on his field through newborn screening. GlobalGenes.org has posted the interview on its site.
When newborn screening came along, he says, physicians went from only doing PKU screening to testing for dozens of rare disorders, many of which can be managed starting at birth.
Still, for most patients who would walk in with disabilities he and his colleagues did not know that the underlying problem was. Now, with CNV analyses and genome sequencing, he says, "we can get a very specific understanding of what is going on in about 50 percent of the patients that we see with rare disorders."
That has been "a dramatic increase" from around 10 percent a decade ago, and he sees that number improving so rapidly that soon he and his colleagues "will be able to know precisely which gene or genes are involved" in a great many of the cases they see.
Physicians and patients alike will be important in making genomic analysis more useful in identifying and treating rare disease, he thinks.
Rare disease specialists see a lot of wrong diagnoses, he says, and it is helpful if clinicians can provide very careful and specific descriptions of what is happening with their patients when they are referred.
"The more the physician can stick to describing specifically what the patient is doing or reporting and not try to label it as a particular diagnosis, the better. We have, for instance, lots of patients who initially get diagnosed with cerebral palsy and later get identified with any of 20 or 30 or 40 different genetic disorders."
Beaudet also sees a lot of patients who arrive with a great amount of information in hand about their specific problems, or "highly educated people who have rare disorders." Physicians may need to "have the right kind of philosophy" with such patients, as they "frequently get to know far more about their disorder then their physician" and even attend scientific conferences.
Parents of children with rare disorder are especially likely to get involved, as they will spend 100 hours studying up on their child's disorder," even though it might be a lot of work for physicians to spend even 10 hours studying a rare disorder.
Physicians also may consider reaching out to rare disorder specialists to help treat their patients.
"You can deal with any expert anywhere in the world about a particular rare condition, and you can talk to that expert more easily than the parents can talk to that expert," he says
When there are only 100 or 200 patients in the world with a certain rare disorder, and there are some experts who have devoted their lives to this one problem, physicians would probably find it helpful for their patients to reach out t to these specialists with questions, even via email, to any specialists anywhere in the world, he adds.