Top Geneticist and HHT CoE Director Announces Retirement

We are at once happy and sad to announce the retirement of Reed Pyeritz, MD, PhD, Co-Director of the University of Pennsylvania School of Medicine (“UPenn”) HHT Center of Excellence. Dr. Pyeritz has been an integral part of our organization since 2003 when UPenn became Cure HHT’s 7th HHT Center of Excellence. The knowledge and commitment to the HHT Community that Dr. Pyeritz has contributed over a stellar forty-five-year career as one of this country’s leading geneticists is immeasurable.

Starting at the beginning, Dr. Pyeritz began his education in the field of Biochemistry and it was while he was conducting his PhD work that he became interested in the world of genetics. “I was given the opportunity to watch one of the first amniocentesis and thought…wow, this is incredible to be able to diagnosis an unborn child using techniques in the lab,” says Pyeritz. From there, he made the decision to complete his PhD and then continue onto medical school at Harvard University where he graduated and soon after became Board Certified in Internal Medicine and Medical Genetics and Genomics. Dr. Pyeritz conducted his residency at the Brigham and Women’s Hospital in Boston until he joined the Genetics Department at the Johns Hopkins Hospital. It was there, under the supervision of Victor McKusick, MD, who was widely known as the founding father of medical genetics, that his career in genetics began mapping. Dr. McKusick, who often was said by his peers to have created “career suicide switching from the field of cardiology to genetics,” created the aura of genetic importance in diagnosis which resonated with his team throughout their careers. Working with Dr. McKusick and his team, which consisted of Peter Terry, MD (Pulmonology) and Robert I. White, Jr., MD (Interventional Radiology), who would both play a pivotal role in diagnosing and managing HHT patients in their own fields, is where Dr. Pyeritz saw his first HHT patient in 1979. Dr. Pyeritz began screening patients with HHT and connecting the dots “genetically” with family members. “After Dr. White left Johns Hopkins Hospital to take on the role as Chairmanship of Diagnostic Radiology at Yale, he continued to refer HHT patients to me for years to come,” states Dr. Pyeritz.

In 2000, Dr. Pyeritz began his twenty-year tenure at UPenn in the Division of Translational Medicine and Human Genetics. In 2007, after a rigorous vetting process by Cure HHT, his former colleague, Dr. Bob White, and several other top HHT physicians, Dr. Pyeritz elevated his genetics department to an HHT Center of Excellence. From the start, Dr. Pyeritz took pleasure in teaching first-year medical students about genetics, including HHT. Dr. Pyeritz recounts bringing in patients (patient studies) to describe their symptoms, how it impacted their lives, and their family members’ experiences and struggles with HHT. “This class always got the highest reviews; students found it beyond interesting,” recalls Dr. Pyeritz. One such patient study was none other than Marianne Clancy, Executive Director of Cure HHT. Mrs. Clancy reminisces fondly about sharing her personal story about HHT during Dr. Pyeritz’s genetics course – “I was nervous at first but Dr. Pyeritz would make me comfortable, and the students would line up for 30 minutes or so after the class to talk with me. Dr. Pyeritz emphasized the importance of family history and genetics with his students. His most famous line, ‘HHT will be missed unless you think about it,’ still resonates with me today,” Mrs. Clancy recalls.

At that time, his genetics department at UPenn was only one of two genetic centers in the country that was outfitted to test for HHT, and “it was beyond tough getting insurance approval for the genetic testing at that time,” states Dr. Pyeritz with a note of historic frustration. “Insurance companies would approve all the costly screenings like MRIs, echoes and other radiographic scans, but not genetic testing.  They would put kids through all this anxiety of clinical studies to decide if they had HHT when we could have done a genetic screening,” proclaims Dr. Pyeritz.

It was at that time, in 2006, Dr. Pyeritz, Barbara Bernhardt, MS, and Cara Zayac, MPH received a five-year grant from the National Institute of Health (“NIH”), bringing together medical genetics, social work and business to study the barriers to genetic testing by using the case of HHT. With their forward thinking, Dr. Pyeritz and Ms. Bernhardt devised the novel idea of using online focus chat groups to gather the information needed to make their case. This landmark study was critical in demonstrating to third-party payers–the dreaded insurance companies– the savings of genetic testing vs. clinical screening using imaging. This most important publication, “Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia,” (Barbara A. Bernhardt, 2011) paved the way for genetic testing in HHT. His Co-Director at the time, Scott Trerotola, MD, compliments his work stating: “Contribution wise, I think the work Reed did in showing the value of genetic testing was transformative in terms of our patients getting the care they need. Before this we were constantly fighting with insurers. After, it just stopped, and patients were far better off as a result.”

While Dr. Pyeritz recently saw his last patient in clinic, he will be staying on at UPenn part-time conducting research that began almost six years ago with a DNA sequencing company. While he expresses excitement in the work he will continue to do under the microscope, it is the patients who he will miss most, as well as the colleagues with whom he worked daily. Dr. Trerotola expresses this same sentiment, “I will certainly miss having Reed to bounce ideas. When an interesting case comes up and you are teetering between yes or no for HHT, it was great to have Reed to work through it,” says Dr. Trerotola.

Outside of the lab, Dr. Pyeritz was known for his devoted clinical work with his HHT patients. “The Penn team did the genetic testing for myself and my three children, recalls Mrs. Clancy. “Dr. Pyeritz was a great counsel and alleviated my concerns with all three of my children testing negative for HHT. When they had nosebleeds, I called Dr. Pyeritz. He encouraged me to seek the advice of an ENT and sure enough, it was just a prominent blood vessel, not HHT!”  Dr. Pyeritz admits that he will miss the patient interaction the most after retirement. “Some of my patients and their families have followed me from my early days at Johns Hopkins Hospital to UPenn.  It is a very emotional aspect,” says Dr. Pyeritz with a catch in his voice. It’s been a forty-year journey and it is difficult to cut ties.”

From his early years at Johns Hopkins Hospital where he screened his first HHT patient in 1979 to his twenty-year tenure at the University of Pennsylvania, Dr. Pyeritz has made invaluable contributions to the HHT Community. His most important contribution – creating access to genetic testing for patients and families—will have a long-lasting impactful in the HHT world. His years of commitment to this disease, as well as other genetic disorders, and the steadfast dedication he parlayed into a career focused on rare diseases that many said were unimportant, is worthy of our admiration. “I will miss it all, says Dr. Pyeritz, but I am certainly looking forward to spending time with my two granddaughters, Tallulah and Penelope.” We wish Dr. Pyeritz a long and happy retirement!