Genomic research, as well as bringing discoveries from such research into everyday patient care, raises complex ethical, legal, social and policy questions. As genomic research advances, we have a responsibility to carefully and thoughtfully address these questions with a focus on the best interests of the patient.
- Incidental findings. What if you're participating in a genomic research study and a researcher happens to gain unexpected or unanticipated insight into your genetic risk of a health condition? Should the researcher share this information with you? If so, exactly what should you be told — and how and when?
- Return of results. What if you are having your genome sequenced to determine whether you have a gene variant that might make you a "slow metabolizer" of warfarin, and in the process a discovery is made that you have a gene variant placing you at a higher than normal risk of Alzheimer's disease? Should that finding automatically be returned to you? Or should you, as the patient, have a choice in deciding before your genome is sequenced whether you want to learn this kind of incidental information or not?
- Privacy and confidentiality. What kind of genomic information should be placed into your medical record, and who should have access to it?
- Right to know. Should parents have the right to learn about genetic risks for adult-onset diseases that their newborn has if the child has undergone genome sequencing as part of a newborn screening program?
The goal of the Bioethics Program is to ensure that the Center for Individualized Medicine is aware of and responsibly addressing the ethical, legal, policy and social issues related to genomic research, translating genomic technologies for clinical use and implementing genomic-based individualized medicine.
As a result, the program has been (and will continue to be) an integral part of the planning and implementation of key projects, including the Individualized Medicine Clinic, to ensure that ethical, legal, policy and social considerations are taken into account at each step.
The program, which is staffed by faculty and personnel from the Mayo Clinic Biomedical Ethics Research Unit, also oversees the center's community engagement activities and conducts research on ethical, social and policy issues in genomic-based personalized medicine.
Areas of focus
Examining the ethical, policy and psychosocial implications to be considered in the translation of genomic-based individualized medicine
The goal of this study is to better understand the hopes, concerns and expectations of individuals engaged in the process of utilizing whole-exome or whole-genome sequencing as a clinical tool.
In the Individualized Medicine Clinic, we are interviewing:
- Patients receiving care
- Laboratorians, scientists and others involved in the clinic
The information we gather will give us a clearer picture of how patients and families experience the Individualized Medicine Clinic and the difficulties encountered by clinicians, laboratorians and others involved in delivering genomic-based individualized medicine. This will allow us to improve the Individualized Medicine Clinic experience for patients.
Genetic and electronic medical record research: Determining whether participants understand the protocol and identifying their reasons for participating
In this study, we will identify factors influencing individuals' decisions to participate in a study on pharmacogenomic information in the electronic medical record, including their hopes, concerns, expectations and understanding of the parent study.
Data from this study will provide insight into how patients might respond to having their genomic information placed into the medical record. It will also help us identify mechanisms for mitigating concerns and misperceptions that might hinder implementing genomic-based clinical care.
Piloting the patient-clinician interface in whole-exome sequencing: Experience of medically educated scientists
The goal of this study is to describe how a limited number of medically and genetically knowledgeable individuals experience the process of having their exomes sequenced as "patients."
We are using a series of surveys conducted before, during and after the counseling, consenting and return of results to learn their views on the psychosocial implications of genomic-based personalized medicine.
The information from this study will complement the data from our study of the Individualized Medicine Clinic and ultimately help us to enhance the patient experience.
Determining physicians' perceptions of genomic-based medicine: A focus group study
The goal of this project is to describe how physicians think about genomic-based medicine, what hopes and concerns they have, and how it might affect their practice. The data from this study will facilitate the full integration of genomic medicine across Mayo Clinic by helping to identify barriers encountered by Mayo clinicians.
Richard Sharp, Ph.D. Director