There are 37.2 trillion cells in the average human body. Most of those cells contain genetic information that may be helpful to our providers to fully evaluate a patient. Our genetic counselor, Carolyn Farrell, PhD, MS, WHNP-BC, CGC, is our genetic Rosetta Stone at Western New York BloodCare. Her important work keeps our developing care on the cutting edge.
Dr. Farrell sat down on a recent Tuesday afternoon to talk about her professional background, how genome studies are revolutionizing healthcare, and how different approaches to therapies could successfully treat or potentially eliminate bleeding disorders in the future.
Dr. Carolyn Farrell brings decades of experience to our Main Street hallways, and a special connection between our organization and the University at Buffalo. “I received my Bachelor of Science degree in 1971 from UB, in Nursing. I worked as a public health nurse for a couple of years, and although I like nursing, my passion was science and genetics so I explored going into genetic counseling.
“At this time, it was 1980 and there were very few MS Genetic Counseling programs – only 6 across the country. I had three small children, so attending the closest one (Sarah Lawrence in New York City) was not an option. Neither was an off-campus, distance arrangement for this relatively new area of study and its required on-site clinical rotations. It might as well have been ‘the dark ages’ – satellite programs were, in general, unacceptable. However, I was determined and creative. I requested MS GC Program brochures, examined their courses, recognized what content I had or would get (from my Nursing background, and MS NP Program), identified components I needed (i.e., medical/clinical genetics, and then drafted a modified Master’s program working from existing UB curriculum.
“After talking with various UB Deans and/or the Registrar, I went through the Master’s Nurse Practitioner program in the School of Nursing, petitioned and took Medical Genetics and Advanced Medical Genetics with the med students, and took Biochemical Genetics, Embryology and other relevant courses with other UB Graduate Schools. Ultimately, for my 39 hour master’s, I ended up with 62 hours,” she explained. “I graduated as a MS Nurse Practitioner, and became both licensed and certified as an NP (with a concentration in human genetics). Separately, I submitted my academic and professional credentials, together with my healthcare experience meeting the required extensive log of genetics clinical cases, and petitioned the American Board of Medical Genetics to sit for the certification exam as a genetic counselor. It was in 1987 that I became board certified through this national genetics credentialing board. Thus, I wear and value “both hats” – the medical/healthcare and the genetics/genomics
Her education did not end there. “For about 15 years, I was exploring how I could get a doctoral degree; however, there was really nothing available with a clinical focus in genetics. Finally, in 2010, I found out about the new PhD Healthcare Genetics program at Clemson University. As far as research, it had three tracts – ethics, clinical, or laboratory. I combined the ethics with the clinical. My PhD research hypothesized that people’s interest in genetics (and beyond that, genomics) and testing included: (1) a desire for information to explain their health problems or concerns that could not be detected or answered by current medical testing or evaluation, and (2) to identify potential risk factors so they could take action to lessen or delay the onset of health problems (e.g., diabetes). I examined this using survey data from a large-scale national genetics/genomics health study.”
Given the time and effort she’s put into her education, it is no surprise that it is important for Dr. Farrell to remain on the leading edge of therapies and technologies. “I attend at least two genetics meetings every year sponsored by the major genetics societies – the American College of Medical Genetics and Genomics, the National Society of Genetic Counselors, the American Society of Human Genetics, and the International Society of Nurses in Genetics. I have presented lectures, posters and workshops, as well as attending these types of sessions focused on education, genetic testing and counseling, and ethical, legal and psychosocial issues, as well as the latest clinical advances and specific disorders such as hemophilia and bleeding disorders”
Western New York BloodCare offers Dr. Farrell an ideal place to continue to practice in the genetics/genomics areas she believes are most helpful to others. “My background, historically, has been clinical. I enjoy interfacing with individuals, families and healthcare providers. My goal is to help people and their healthcare providers by advancing genetics awareness, knowledge and understanding, promoting respect for each other’s values and perspectives, and advocating for and facilitating the ability for access to needed genetics services and care.” Her background and clinical experience in genetics lend itself to enhancing the services of our Comprehensive Clinics, as well as contributing to the work of the S.H.E. Clinics to assist women afflicted with bleeding disorders. “Historically, bleeding disorders have been thought to affect only males. My research interests are directed at the interface between and integration of the clinical with the research, to the benefit of better health. Specifically, my focus is early identification of risk, prevention strategies and targeted, individualized therapies. Of course, an important part of genetics and genomics, and good example of current capability in the context of bleeding and clotting disorders, is how genetic testing and identification of the specific mutation in a gene can possibly help in treatment or medical management decisions
“In the context of worrying about having children at possible risk, as I have encountered in professional practice and is relevant to persons with bleeding or clotting disorders, genetic counseling and testing may be of great value. This includes consideration of options, actual risks (versus perpetuated myths or fears), addressing insurance questions or other concerns, and pre-pregnancy or prenatal approaches (e.g., in vitro fertilization and selection of ova without the gene mutation).”
Clinical application of her research is Dr. Farrell’s specialty at Western New York BloodCare. Each person she meets with depends on her to help them garner a clearer picture of how genetics relates to them, their condition, possible genetic testing, and if relevant, what may lie ahead for them, and for future generations. “My role here is typically meeting with the individuals who come in and have a personal or family history with a bleeding or clotting disorder. I get their medical history and their family’s history. I do an extensive genetic pedigree – a genetic family tree. I ask what conditions exist in the family, the age of diagnosis, the age when they died, and if is there anything that tends to run in the family. I also assess if there is a constellation of factors suggestive of an inherited condition that warrants further exploration, if there is a pattern of the condition (one that goes generation to generation, or across sibships), and address whatever questions or issues or concerns an individual or family has.”
The experienced healthcare geneticist has a vision for the future. She believes that education, knowledge, respect for others, and advocacy are key to getting the best possible healthcare and treatment. “Besides doctors, it is important to convey this message to intermediate and allied healthcare practitioners – nurse practitioners, physician’s assistants, social workers, physical therapists, etc. They are an excellent focus and resource for education (for themselves, individuals, and other healthcare providers), for integrating genetics/genomics into practice and research, to identify and refer persons in need of genetic services and/or resources, and to advise, inform team members and get the genetics message out,” She also sees a future where genetic therapy can make a significant impact on treatment and potentially eliminate disorders. Gene therapy spans and includes many approaches, such as inserting a normal gene or DNA segment into the genome so that the normal gene product is made (like a specific protein or enzyme) and eliminates the deficiency. This process relies on successful integration of the gene/DNA, no disruption of some other gene, and that the gene can express itself. There are many other exciting approaches occurring as part of gene therapies and molecular genetic testing.”
Education, awareness, and early detection are keys to identifying and treating bleeding disorders, and Dr. Farrell’s work ensures Western New York BloodCare is invested in these important elements of care for the betterment of its patients.