Comprehensive Hemophilia Care Includes Genetic Counseling, Research
“What we provide is care, from even before birth all the way through geriatrics—with the same team, including pediatric and adult hematologists,” said Catherine McGuinn, MD, Director of the Comprehensive Center for Hemophilia and Coagulation Disorders at NewYork-Presbyterian Hospital/Phyllis and David Komansky Center for Children’s Health at Weill Cornell Medical Center in New York City.
With three full-time hemophilia nurses, a family nurse practitioner, a genetic counselor, a physical therapist and a dedicated social worker on staff, NYP/Komansky Center is able to provide a unique level of preventative and comprehensive care, helping patients with bleeding disorders manage all aspects of their lives.
“We see patients annually or biannually. They are able to check in with all of these providers, in one day and at one location, to see how we can help them with their educational or vocational needs as well as their medical needs,” said Dr. McGuinn, who is an Assistant Professor of Pediatrics at Weill Cornell Medical College.
Genetic Consultations
The genetic counseling component is of particular interest. As genetic testing improves in its ability to yield useful information, NYP/Komansky Center is expanding the definition of comprehensive care through the use of genetic counseling in the perinatal setting.
“We’re entering the age of personalized and precision medicine where we think of diseases more based on genes and genetic modifiers than on just the functional basis,” Dr. McGuinn said. “Our dedicated genetic counselor is, therefore, very valuable to families with a disorder which has a genetic basis. We consider who else is at risk of inheriting hemophilia and who else should be tested, so as to provide appropriate counseling about the impact of the disorder and what other factors may modify its severity.
“While each patient might have the same functional disorder,” Dr. McGuinn explained, “as we understand more and more about genetic modifiers of these diseases, testing might reveal differences in risks for complications or immune response to treatment.”
One standout feature of the program, Dr. McGuinn said, is meeting with expectant mothers who have a known familial risk for hemophilia. “There are a lot of different issues that come up with a pregnancy in terms of managing the risks to both the mother and the affected baby during delivery. These are managed in conjunction with the adult hematologist and the obstetrician.
“As a pediatrician, I’m able to consult with the mothers about managing an affected newborn,” Dr. McGuinn said, “and adjusting their expectations for someone born with hemophilia today as opposed to 15 or even 30 years ago, when their other family members might have been born with hemophilia.”
The newer developments in genetic testing also raise ongoing questions about when certain information should be revealed—whether prenatally, postnatally or at all, questions that McGuinn said are discussed among the team on a case-by-case basis.
Research Initiative
One especially exciting development, she said, is a new initiative called “My Life, Our Future.” The initiative is a nationwide campaign to make progress in understanding hemophilia. “My Life, Our Future” has given a grant to Dr. McGuinn’s program, the only such grant in New York state, with the goal of building a nationwide biobank of hemophilia patients. The grant allows patients at NYP/Komansky Center access to free genotyping, which Dr. McGuinn said offers both clinical and research-related benefits.
“By having access to all of these specimens, we can not only help patients answer questions that they might have about their own genetics, but also answer questions that we haven’t even thought of yet—about genetic associations with response to treatment, for example—at a later point in time,” Dr. McGuinn said. “Our patients’ own genotypes are given back to them so they can better understand their family history, and it provides us with a research repository for the future.”
The patient care provided by the Comprehensive Center for Hemophilia and Coagulation Disorders at NYP/Komansky Center is not limited to patients, Dr. McGuinn said. Members of the team regularly interact with others in the community, such as at schools, day care centers and dentist offices, to make them aware of the needs and challenges of hemophilia patients and answer questions they may have about care. The center itself is also available as a community resource to provide education to anyone who might need it.
Another major research contribution of the program is participation in ongoing clinical trials to obtain FDA approval for new classes of medications to replace the deficient proteins and promote blood coagulation. While the previous focus was to minimize the risk of transmitting diseases like HIV and hepatitis through human plasma-derived concentrates, the newer products are focused on improving quality of life through fewer infusions and better prevention of bleeding events. Of particular interest to Dr. McGuinn and her colleagues is the development of proteins that have a longer half-life, or those which may be administered subcutaneously rather than intravenously, requiring fewer infusions and less discomfort to patients.
“It’s a new era,” Dr. McGuinn said, “both in terms of treating bleeding disorders and in terms of delivering that treatment in a way that’s less onerous for patients.”
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