Genetic Support Foundation board president, Daniel Bellissimo, has been a national leader in the field of molecular diagnostics and human genetics for over thirty years.
Daniel earned a Ph.D. in biochemistry from Duke University then spent 23 years at BloodCenter of Wisconsin in Milwaukee as director of the Molecular Diagnostics Laboratory. He is currently an associate professor at the University of Pittsburgh in the department of OB/GYN and Reproductive Sciences where he serves as the director of the University of Pittsburgh Medical Center (UPMC) Clinical Genomics Laboratory and the UPMC Genome Center. He also is the program director of the ACGME Laboratory Genetics and Genomics Fellowship Program.
Originally from Wisconsin, he began a long career at BloodCenter of Wisconsin, a non-profit company well-known for their diagnostic work on platelet and bleeding disorders, transplantation and transfusion working as a product development scientist.
This led to his interest in using new technologies in molecular genetics to develop molecular testing for a variety of bleeding disorders. With the field of clinical genetic testing evolving at a rapid pace, becoming board-certified in human genetics seemed like the next step. He had the immense privilege of completing an ABMGG fellowship in Clinical Molecular Genetics at the University of Wisconsin-Madison under the mentorship of GSF founder, Jon Wolff.
Rapid advances in gene sequencing technologies enabled labs to move from manual single gene techniques to rapid automated techniques capable of analyzing many or all genes to determine if patients had genetic diseases or genetic predispositions. Daniel saw the opportunities that this rapidly expanding field would bring in addition to the challenges it would bring for patients. When Jon Wolff founded GSF, Daniel jumped at the opportunity to help guide the emerging field in a positive direction.
In addition to serving on GSF’s board, he gives his time and service to his local community in Pittsburgh by supporting organizations that provide housing and food to those in need.
An avid cyclist, he rides over 6,000 miles each year, cycling to work every day, rain, snow, or shine. But a passion for medicine and helping others is something he shares with his entire family. His wife, a hematologist, focuses her research on helping patients with sickle cell disease. One of his daughters is currently pursuing a medical residency at the Children’s Hospital of Philadelphia, and the other works as an engineer designing medical equipment. Clearly, medicine and serving others is the family business.
What are some of the biggest issues in the world of genetic counseling/genetic science?
Genetic information can help us diagnose diseases, predict diseases we may get in the future, predict whether our children may inherit diseases from their parents and predict our responses to drugs. However, some genetic information can be difficult to understand. One of the biggest challenges we face is how we communicate genetic information to patients in a way they can understand so they are able to make autonomous decisions regarding the use of their genetic information.
An important part of this equation is the availability of high quality and accurate genetic testing. This has always been a focus of mine since I work in a laboratory setting. Most clinical genetics laboratories are licensed and accredited by CAP and CLIA. In these laboratories, there is a focus on quality practices, learning and continuous improvement while creating an environment that provides the appropriate training to the staff and puts into place stringent procedures and processes that ensure low error rates. Clinical laboratories are required to participate in proficiency testing that is reviewed and graded by area experts. Proficiency testing helps to ensure laboratories are reporting accurate test results and interpretations.
Unfortunately, some testing companies escape regulatory oversight by claiming they are performing research testing, not clinical testing.
There are many instances of genetic testing being offered direct-to-consumer that are not clinically valid or accurate. Patients often bring the results to their doctors, who cannot act on this information without confirming the results in a clinical laboratory. Many times, clinical lab testing reveals that the results from the direct-to-consumer company have errors or an incorrect interpretation of the data. This can be an incredibly emotionally difficult and unnecessary experience for patients, especially when inaccurate testing shows something of grave concern, such as potentially carrying a pathogenic variant in the BRCA1 gene.
GSF is in position to have a large impact on this problem and that’s why I’m happy to serve on GSF’s board. GSF can provide unbiased information so a patient understands the risks and limitations of a test, can make sure patients get the right test from a quality laboratory, then helps them understand what the test results mean for them and their families. That’s really the primary issue that the world of genetic testing and health is facing now, and this issue will only get worse with the increase in testing and the shortage of genetic counselors.
What are some of the biggest challenges facing GSF?
Large testing companies are beginning to offer counseling services as part of the test, which presents a significant potential conflict of interest and raises concerns about counselors’ ability to provide unbiased information to patients.
GSF, on the other hand, offers straightforward, unbiased information to patients to help them understand their testing options and to navigate the results and their implications for their health and the health of their family members.
That role of neutral, unbiased advocate for patients within the field of genetic medicine is becoming increasingly critical, especially as the testing industry finds new ways to ensure that as many people take their tests as possible to grow their bottom line. Offering free genetic counseling and partnering with clinical providers and healthcare organizations at no cost may seem like a boon to genetic testing but not if it comes at the cost of having access to accurate, unbiased information.
Everyone should have access to the type of expert genetic care that GSF offers, and the reality is that they don’t. Underserved populations are not getting the services they need. Insurance often doesn’t pay for those services, and doctors may not have the up-to-date training and knowledge needed to explain complex genetic results to their patients. That’s why not only does GSF offer free and low-cost genetic counseling to patients supported by our generous donors, but we also are also advocating for legislative change to help ensure everyone has access to unbiased, accurate genetic counseling.
In today’s world, we see examples every day of the damage that misinformation and incorrectly interpreted data can have on our society. It is essential that people get accurate and unbiased information when it comes to their genetic health, so they can make critical decisions that have long-term impacts on their lives and the lives of their families.
Donating to GSF touches the lives of all of those people who need access to accurate genetic information. For many of us, this is even more personal. We know families who have genetic diseases and we have seen how it affects everyone in the family. We should all be supporters of greater access to high-quality genetic testing and genetic counseling.