George Annas and Sherman Elias Explain how the Evolving Science of Genomics is Changing Medical Care in New Book
Genomic Messages is a patients’ guide to genomics, personalized medicine, and the future of US medicine and public health.
When President Obama announced his Precision Medicine Initiative during his State of the Union address this year, it included plans to collect, store, and analyze genetic data, medical data, and family histories of one million Americans. Such a program could allow scientists to develop treatments and drugs that are custom-fit or tailored to individual patients. As more physicians begin recommending genetic testing, more of us will face decisions about what to do with this new information, and depending on how we use it, our lives could get better or worse. For this very reason, Professor George Annas’s latest book, Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future, comes at a particularly important moment. Published in June, the book was ranked as the number one best-selling new health law book on Amazon in late July.
As chair of the School of Public Health’s Health Law, Bioethics & Human Rights department, William Fairfield Warren Distinguished Professor, and a professor for BU Law’s health law concentration, Annas has been conducting research related to genetic privacy and genetics in medical practice for the past 30 years. Genomic Messages, written with the late geneticist Sherman Elias, former chair of Obstetrics and Gynecology at Northwestern University’s Feinberg School of Medicine, is written for a general audience. It follows earlier academic books, written with Dr. Elias, for other lawyers and doctors, including Reproductive Genetics and the Law (1987), and Gene Mapping: Using Law and Ethics as Guides(1992). They have also written articles together in the New England Journal of Medicine, Journal of the American Medical Association, Nature, and Science, among others.
Growing Prominence in American Medicine
Genomics will almost certainly change how we think about ourselves, and is powerful enough, Annas believes, that it could transform American medicine itself in the coming decades. The way genomics is introduced into our health care system will have profound effects on how we conceptualize both privacy and informed consent in the physician-patient relationship. This is because genomics not only provides us with massive new information, but it also suggests new ways in which we can use that information to diagnose and treat disease.
Cancer is perhaps the prime example. Some oncologists are already genotyping a patient’s tumor and using this information to help determine the most effective way to attack it. The patient’s own genome can also be used in limited circumstances to determine which drugs, or which doses, are likely to work best for that person. Genomics may also suggest prevention strategies, such as diet and exercise, although these are generally good for people regardless of their genomes. This tailored approach is traditionally referred to as genomic medicine, but has also come to be termed personalized, or to use the President’s term, precision medicine.
As genomic testing grows in sophistication and popularity, it will become an integral part of the conversations we have with our physicians. Those conversations can’t happen if patients don’t have a basic understanding of genetics, what they are being screened for, and how to interpret and act on the information discovered. “The book looks at the promise of genetics through the lifecycle,” Annas says, “from conception to pregnancy to birth, infancy, childhood, and adulthood. Our goal is to approach the topic in a way that will permit people to have sophisticated conversations with their doctors.”
Prenatal screening is already commonplace for major chromosomal abnormalities such as Down syndrome. New technologies can isolate fetal DNA from the mother’s blood, and permit a wide range of genetic screening tests to be performed on the fetus without using the traditional, more invasive tests. “As the genes we can search for expand in number, we will have to develop rules for determining which ones should be routinely screened for, and which should be looked for only upon request,” Annas says. “Should some, like late-onset conditions, such as breast cancer, not be looked for at all? There is no perfect genome and in that sense the quest for a genetically perfect baby is unattainable. On the other hand, even asking what it means for a baby to be “healthy” in our coming genomic age is not easy.”
Patient Privacy and Informed Consent
The most critical legal issues that cut across the entire life span in genomics are privacy and informed consent, and it is the impact that genomics might have on these legal doctrines that concerns Annas. “Genomics has the potential to change the way medicine is practiced in ways that could undermine both patient privacy and informed decision-making,” he notes. “Even now, there are proposals for routine collection of DNA samples, and for developing methods to digitize the genome and store it in a patient’s electronic health record.”
So who gets to decide to digitalize your genome, and then what information can be extracted from it once it is digitalized? Who owns your DNA sample, and the electronic record constructed from it, and what can be done with them; who stores this information, and who can get access to it? These questions get asked not just in medical offices, but in research, and even in the criminal justice system where DNA has been used for identification purposes for decades.
New technologies to edit DNA are drawing attention as well. There have been calls to restrict the use of new editing techniques, such as CRISPR, to non-human animals, or even to plants. The concerns are that their most likely use is not to cure disease, but to try to genetically engineer a “better” baby. While gene-editing techniques are not ready for human testing, Annas notes that at least some scientists think the day it could be done safely is not far off. “It raises ethical questions about whether we are ready to permit research on embryos that could lead to stronger, smarter, better looking babies. What does a “better” baby look like? Is this taking us inevitably down the road of eugenics, and do we really want to go back down that road?”
The way the medical community handles genomics now will inform how medical ethics, privacy, patient’s rights, and informed consent are handled going forward. The rules for governing this data are being created now, and the President’s genetic database will likely set the standard for how this information is controlled and protected in the future. “It is incredibly important that we get it right,” Annas says. “Genomic information won’t be protected unless the public demands it. That’s what makes these conversations so critical.”