Ethical considerations for using human genome sequencing as a diagnostic tool in health care
Genetic technologies are developing at a rapid pace. The arrival of personalized medicine is exciting and brings the promise of dramatically improved therapeutic results. It is conceivable that in a few short years it will cost a patient only a few hundred dollars to have their genome sequenced.
Genetic information provides valuable diagnostic information. However, the ethical implications of new genetic technologies—specifically, genome sequencing—brings to light some important implications in the delivery and use of genetic information in health care. There are three central ethical considerations that health care professionals must consider before deciding whether to adopt human genome sequencing as a diagnostic tool: giving information without the ability to provide any therapeutic measures, uncertainties in risk probabilities, and the sharing of results with the patient’s family members.
The type of information a sequenced genome provides presents ethical dilemmas. The patient will be provided with information about their genetic health, which can be very useful in helping them to determine what type of life to lead. However, there are no medical therapies to address many genetic problems directly (e.g. Parkinson’s and Alzheimer’s); the most that can be offered is symptom management. Currently, there are no gene-transfer therapies adopted in the Western hemisphere. China has claimed success with Gendicine; but this therapy has not been adopted elsewhere.
Absent gene-transfer therapies, patients will be provided with potentially devastating information and have no medical alternative. This can have profound psychological effects. Therefore, when the option of genome sequencing is presented to the patient it is imperative that they truly understand the implication of the results.
Another ethical consideration revolves around interpreting the information revealed by sequencing an individual’s genome. Take for example an individual who has their genome sequenced and is told they have a 10% chance of developing Alzheimer’s disease after the age of 70. What does that “10%” actually mean? Is it an absolute one in ten chance; or is it a one in ten chance if a series of other genetic factors are expressed? The answer is unclear; even geneticists face challenges when describing the true value of genetic probabilities. Conveying this uncertainty in risk probabilities to patients will be extremely difficult. From an ethical position we must consider how such information would impact a patient’s life decisions. If an individual is given this information at age 40, will they then wonder and worry for the next 30 years about their prospects? As genome sequencing becomes available more cheaply, the disclosure of relevant information must be considered as well as developing realistic ways to present risk probabilities to patients without creating undue fear.
The final ethical consideration that requires immediate attention pertains to the families of those individuals having their genome sequenced. Families share genetic material and the results of one individual’s test will have implications for others in the family, particularly for biological siblings and children. When genetic information is being discussed, the familial implications must be considered as well as the privacy of both the patient and family members. A number of recommendations have emerged due to this ethical dilemma of health care professionals moral obligation to third-party relatives. It has been suggested that these issues be addressed in the initial informed consent process. Health care professionals should discuss implications for the patient’s family and encourage patients to include close biologically-related relatives in some discussions. There should be a family-centered approach to informed consent with genome sequencing because the information affects not just patient but their immediate relatives.
The ethical implications of adopting human genome sequencing as a diagnostic tool are immense and not limited to the three issues identified here; these are simply ones that must be addressed immediately as the technology become cheaper and readily available. Other ethical concerns such as storing genetic information, the impact genetic information may have in the insurance industry, and many others are important and must be seriously considered. Studies have shown that health care professionals lack adequate education regarding the implications of genetic information.
In order to protect patient rights and ensure a high quality of care the ethical considerations surrounding genome sequencing must be addressed.
Aimee Zellers is the Director for Education Development at the Institute for Consultative Bioethics, based in Pittsburgh Pennsylvania. She is currently finishing her doctoral work in bioethics at Duquesne University.