Expanding the Reach of Genetic Testing for Patient Care
Expanding the Reach of Genetic Testing for Patient Care
Versiti’s Hematology Genetics lab provides answers for patients and families with rare and severe bleeding disorders, including hemophilia and von Willebrand disease.
These days, it’s commonplace for people to order ancestral DNA kits from 23andMe and AncestryDNA to learn more about their heritage, build their family trees, and even gain insight into whether or not they may be susceptible to certain medical conditions. The availability of these kits has made genetic testing more streamlined and accessible to the general public, but they don’t show the whole picture. In order to accurately assess whether or not someone has or may develop a hereditary disorder—including blood disorders like hemophilia and von Willebrand disease—it’s necessary to receive clinical genetic testing from a qualified expert.
How genetic counselors contribute to patient care
That’s where certified genetic counselors like Versiti’s Stefanie Dugan, MS, CGC, come in. “Patients are asking for this kind of testing,” she said. “For hematologists, who typically have little, if any, formal training in genetics and are already fully tasked with their existing responsibilities, it can be daunting to figure out how to best navigate genetic testing and how to incorporate genetic medicine into patient care.”
Genetic counselors are part of a larger healthcare team, including hematologists, that provides comprehensive care to patients. Their advanced training in medical genetics and counseling helps other clinicians, as well as patients and families, understand a patient’s genetic risks based on their personal and family history, determine whether genetic testing could be beneficial, understand any limitations, and interpret results.
This is particularly important because genetic test results might show a DNA variant, but that doesn’t necessarily mean that the variant is or will become a problem. “Genetic variation is a normal part of biology. Sorting out ‘normal,’ harmless variants from variants that can cause a condition is the crux of interpreting results,” Dugan said. This understanding provides a supportive framework for patients and families to make informed decisions about their care.
Genetic counseling at Versiti Comprehensive Center for Bleeding Disorders
Dugan works as part of a multidisciplinary team at Versiti Comprehensive Center for Bleeding Disorders (CCBD), a hemophilia treatment center (HTC) that cares for patients with rare and severe bleeding disorders. There, she counsels patients and families with severe forms of bleeding disorders and helps to map their family history and determine who in their extended family may also be at risk for a bleeding disorder—a contrast to most medical care models, which focus solely on the patient in front of them.
She hopes that, as genetic knowledge continues to expand, HTCs like CCBD will be able to offer genetic counseling (that may or may not lead to genetic testing) to patients with more mild forms of bleeding disorders, in addition to those with severe cases. “We’re looking to expand the reach of genetic counseling services to patients with milder, more common forms of bleeding disorders who are not typically seen through hemophilia treatment centers like CCBD,” she said.
Trusted experts in hematology genetic testing
In addition to her work at Versiti CCBD, Dugan supports Versiti Diagnostic Laboratories’ Hematology Genetics (HG) program, which conducts genetic testing that helps healthcare providers diagnose and treat patients with bleeding disorders. Because HG testing is highly specialized and not the particular focus of larger, all-encompassing genetic testing labs, Versiti is well positioned to lend its expertise through its industry-leading, multidisciplinary, patient-centric approach to genetic diagnostics. “As a diagnostic laboratory, we’re a valued partner and trusted, specialized expert,” Dugan said. “We provide clinical support to ordering clinicians so that they can care for their patients.”
Because the understanding of genetics is continuously evolving, Dugan and her team must always keep a finger on the pulse of the latest guidelines in genetic variant interpretation. Part of that involves evaluating current tests and helping the HG lab develop new, more relevant, tests. “Genetic discovery is constant. Part of our commitment to clinical partners is that we offer the best, most clinically sound, comprehensive test offerings,” she said. “We use our expertise to address unmet needs, ensure our tests are clinically relevant and actionable, and keep pace with what’s needed. We’re here to be a trusted partner to clinicians and to ensure the well-being of their patients.”
Versiti’s unique contribution to genetic testing
Unlike other blood centers and genetics labs, Versiti counts a world-class research facility, diagnostic laboratories and a hemophilia treatment center as part of its breadth of expertise, making it easier to research, diagnose and treat rare blood disorders. Dugan believes that this positions Versiti to make an impact across the spectrum of blood health. “What makes us unique as a blood center is that we have a clinical arm, a research arm and a diagnostic lab arm,” she said. “That’s also unique to Versiti Diagnostic Labs.”
In the future, Dugan hopes that more patients will have access to genetic counseling as part of a multidisciplinary treatment plan. “Since the 1960s, Versiti CCBD has recognized the benefit of having a genetic counselor to guide and support families,” she said. “The vision is that anybody being seen by a Versiti physician will have access to a Versiti genetic counselor.”
About the expert: Stefanie Dugan, MS, CGC, is a certified genetic counselor at Versiti Comprehensive Center for Bleeding Disorders and manager of Hematology Genetics at Versiti Diagnostic Laboratories. In 2021, she was recognized with the National Hemophilia Foundation’s Genetic Counselor of the Year award.