GENEWATCH
 
MANAGING YOUR GENETIC PORTFOLIO
By Maggie Curnutte, Melody Slashinski
 

"I'd rather spend my money on my genome than a Bentley or an airplane," said Mr. Stoicescu, 56, a biotechnology entrepreneur who retired two years ago after selling his company. He says he will check discoveries about genetic disease risk against his own genome sequence daily, "like a stock portfolio."1 At the time this statement was printed in March 2008, Mr. Stoicescu was the first person to have his entire genome sequenced by the Cambridge, Massachusetts private company Knome. With a price tag of $350,000, in the same ballpark as that of a Bentley or an airplane, entire genome sequencing was first offered by Knome in November 2007. In comparison to the Human Genome Project, which cost $3 billion, this was a relative bargain-if not exactly cheap. By 2010 the cost had dropped to $50,000. Today, Knome-co-founded by Harvard's pioneering human geneticist George Church, who helped to initiate the Human Genome project-caters its whole genome services and interpretation tools to researchers, not consumers.

Mr. Stoicescu's comparison of his genomic profile to a stock portfolio immediately captures how whole genome sequencing has been sold. It was and continues to be advertised as a long-term investment. As we gain more knowledge about how genes correspond to and influence disease, one's personal genomic information will become more valuable, or meaningful. Whereas in the case of the stock portfolio, risk assessment is used as a tool for managing economic investments, the value of the genomic profile is knowledge of one's risk for certain genetic conditions.

When thinking about the value of genetic information specifically in the medical context, clinicians speak of utility-the likelihood that genetic information will lead to an improved health outcome. An assessment of utility often includes determining whether there are preventive measures or effective treatments available. This model makes sense for classical genetic testing, which can include anything from one's susceptibility for developing colon cancer to a diagnostic test for Huntington's disease. How might we think about utility, though, with whole genome sequencing? Currently very little of the human genome is understood, thus much of the data produced from whole genome sequencing does not yet have significance, or meaning. Raw, un-interpreted data do not have utility.

Investing in a complete genetic profile in a clinical setting, however, implies future utility, or direct utility for clinical purposes in light of new research findings. To achieve this predicted future utility, we anticipate that one of the greatest challenges to the integration of whole genome sequencing in the clinic will be developing new mechanisms to revisit people's genetic data in light of new research findings. While not exhaustive, we would like to explore three guiding questions that highlight some ways in which the future utility of whole genome sequencing challenges current clinical practices.

How often will a patient's complete genome be revisited?

Eventually whole genome sequencing will become a standard tool of clinical practice. What we currently see as non-significant, non-interpretable, raw data will have clinical significance-identification of genetic markers for disease susceptibility and development of targeted therapies, for example. The pace of integrating an individual's genetic profile into clinical care goes hand in hand with the question of how often the patient's genome will be revisited. Health care providers could update a patient's genetic profile during the annual medical exam, but this introduces several issues. First, a potential lack of genetic knowledge on the part of the physician suggests that the physician would need access to training to make use of the genetic information. On a broader level, it requires us to think about current medical school curricula and whether doctors are sufficiently trained in genetics. Second, in lieu of additional training, the influx of genetic information into the clinic will place a greater demand on genetic counselors who are able to review patients' complete sequence data and make recommendations based on current research. Lastly, physician-patient communication to review and respond to a patient's complete genomic profile may be compromised by the limited time the physician is currently allotted to each patient.

How will we balance the rights of patients to know/not know their genetic information with the physicians' responsibility to treat?

If we develop a model in which, for example, patients' whole genomes are revisited on an annual basis in light of current research findings, we must also develop a framework that respects patient autonomy and preferences in light of physician responsibility. One consideration centers on who will be responsible for determining the clinical significance of an individual's genetic information - who will decide what is relevant, or worth knowing? We must consider how to balance the rights of patients to decide which pieces of genetic information they want to know with physicians' ability to treat. On the one hand, physicians might have difficulty not disclosing all information, such as genetic markers for debilitating conditions or carrier status for diseases, given this might inhibit their ability to treat their patients. On the other hand, patients might have good reasons for wanting to know some genetic information, such as susceptibility for heart disease, because there are measures to reduce risk and outcome, while not wanting to know other types of information, such as one's susceptibility for Alzheimer's disease, for which there are no preventive measures. Choosing a model of shared decision-making between physician and patient will facilitate communication and protect physicians from potential liability associated with full disclosure or withholding of information.

How should we think about whole genome sequencing coverage? Should it follow from a cost-benefit analysis and should insurers pay?

The concerns we've posed above for the future utility of whole genome sequencing makes it difficult to assess at this point whether insurers currently should pay for clinical whole genome sequencing. A somewhat unsatisfying truism, context matters. As the cost of whole genome sequencing goes down, however, and it becomes more readily available, there will likely be a demand for physicians to integrate this information into clinical care. There will be many who want whole genome sequencing to be covered by insurance. Again, we are still unsure whether all of this data is currently useful, as integrating it into clinical practice is still under investigation. Genetic information is unique from other types of clinical information. For example, measuring one's blood pressure or platelet counts are time-dependent snapshots of one's health. In contrast, genetic information is (relatively) static-yet the clinical significance is emerging.

 

Maggie Curnutte, PhD, is a Post Doctoral Fellow at Baylor College of Medicine's Center for Medical Ethics and Health Policy.

Melody Slashinski, MPH, PhD, is an Instructor at Baylor College of Medicine.

 

ENDNOTES

1. Harmon, Amy., 2008. Gene Map Becomes Luxury Item. The New York Times Online, 4 March. Available from: http://www.nytimes.com/2008/03/04/health/research/04geno.html?ref=dnaage [Accessed 31 October 2012].

 
 
Search: GeneWatch
 
 
 
The purpose of the Genetic Bill of Rights is to introduce a global dialogue on the fundamental values that have been put at risk by new applications of genetics.
 
View Project
 
 
Created in 1999 by the Council for Responsible Genetics, the Safe Seed Pledge helps to connect non-GM seed sellers,distributors and traders to the growing market of concerned gardeners and agricultural consumers. The Pledge allows businesses and individuals to declare that they "do not knowingly buy, sell or trade genetically engineered seeds," thus assuring consumers of their commitment.
 
View Project
 
 
Tools
PAGE TOOLS
 
 
 
 
ON THE WEB