April
1

Research Ethics and Policy Series (REPS) | Reed E. Pyeritz, MD, PhD

12:00pm - 1:00pm • Austrian Auditorium, Clinical Research Building, 415 Curie Blvd.

2019-04-01 12:00:00 2019-04-01 13:00:00 America/New_York Research Ethics and Policy Series (REPS) | Reed E. Pyeritz, MD, PhD The return of genetics research results Abstract: Potentially detrimental genetic variations are increasingly being detected incidentally in a variety of research situations, as well as in testing for specific clinical indications. One confounding problem in both settings is whether a genetic variant is truly pathogenic or not. Also, in sequencing done for research purposes, do investigators have a responsibility to search for pathogenic variants in their entire database and, if discovered, contact subjects? If so, was consent obtained and how effectively should subjects be counseled? In the clinical setting, more and more often, 'genetic testing' for the cause of a specific phenotype involves not just a panel of susceptibility genes, but whole exome or whole genome sequencing. In the latter situations, uncommon variants are undoubtedly found. To date abnormalities in only about 5 dozen genes are recommended to be returned. The final issue to be discussed is whether, and if so how, should a change in the interpretation of a variant be communicated, by whom and to whom. Bio: Dr. Pyeritz, a medical geneticist, focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue; and, ethical, legal and social implications of human genetics. He is continuing his studies, begun over 30 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts address the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz is utilizing the Penn Medicine BioBank, in which greater than 12,000 participants have had whole exome sequencing on a research basis, to identify people with mutations in specific genes known to cause aortic aneurysms. Review of the electronic health records reveal has revealed that most of the participants with mutations have not had their aortas imaged. The on-going ethical issues are whether these research participants should, and if so can, be re-contacted to suggest clinical evaluation. He has just chaired a committee of the American College of Medical Genetics and Genomics that produced a policy statement about whether there is an obligation to re-contact patients, who have undergone any type of genetic testing, if, by any number of possible approaches, the initial report of the results changes due to an altered understanding of the severity of the genetic mutation.   Austrian Auditorium, Clinical Research Building, 415 Curie Blvd. Penn Medical Ethics

The return of genetics research results

Abstract: Potentially detrimental genetic variations are increasingly being detected incidentally in a variety of research situations, as well as in testing for specific clinical indications. One confounding problem in both settings is whether a genetic variant is truly pathogenic or not. Also, in sequencing done for research purposes, do investigators have a responsibility to search for pathogenic variants in their entire database and, if discovered, contact subjects? If so, was consent obtained and how effectively should subjects be counseled? In the clinical setting, more and more often, 'genetic testing' for the cause of a specific phenotype involves not just a panel of susceptibility genes, but whole exome or whole genome sequencing. In the latter situations, uncommon variants are undoubtedly found. To date abnormalities in only about 5 dozen genes are recommended to be returned. The final issue to be discussed is whether, and if so how, should a change in the interpretation of a variant be communicated, by whom and to whom.

Bio: Dr. Pyeritz, a medical geneticist, focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue; and, ethical, legal and social implications of human genetics. He is continuing his studies, begun over 30 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts address the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).

Dr. Pyeritz is utilizing the Penn Medicine BioBank, in which greater than 12,000 participants have had whole exome sequencing on a research basis, to identify people with mutations in specific genes known to cause aortic aneurysms. Review of the electronic health records reveal has revealed that most of the participants with mutations have not had their aortas imaged. The on-going ethical issues are whether these research participants should, and if so can, be re-contacted to suggest clinical evaluation. He has just chaired a committee of the American College of Medical Genetics and Genomics that produced a policy statement about whether there is an obligation to re-contact patients, who have undergone any type of genetic testing, if, by any number of possible approaches, the initial report of the results changes due to an altered understanding of the severity of the genetic mutation.  

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