Image via Wikipedia In the future will doctors be able to hook you up to a genetic sequencer and fore tell your whole future like some high tech soothsayer? Will your genetic readout determine what happens to you- how society views you? Will you be labeled a high risk for cancer or some other disease and therefore not eligible for employment benefits? Or will you be considered a future criminal and be under some sort of police surveillance- "Cause we know you're gonna do it one of these days!" Could there be a move for 'pre-emptive arrests'? The brave new world has arrived ahead of schedule. Are you ready?
Recent news reports on genetics shed light on the direction of DNA research. Reports from the National Human Genome Research Institute (NHGRI) demonstrate significant genetic advances that may soon offer new opportunities and require thoughtful decisions from patients. In February the NHGRI reported that the cost of DNA sequencing - identification of each of the six billion base pairs in an individual's genome - is rapidly declining: from $100 million in 2001 to $10,000 today. Noting this dramatic fall, a writer at Medgadget.com comments:
At this rate it will not be long before a whole genome will go for less than 1,000 dollars. Yet despite these amazing advancements, adoption of genetic technologies in clinical practice still has not really caught on, but we are eagerly awaiting the day were [sic] we can run a whole genome sequence for each patient on our own in-office desktop sequencer.
Clinical diagnosis and individualized treatment of disease based on a patient's genetic makeup is NHGRI's stated goal. Eric Green, M.D., Ph.D., director of NHGRI, says, "While significant challenges remain to our understanding of how the genome operates in health and disease, there are enough examples to say with confidence that genomics research will lead to important advances in medicine."
The NHGRI has also announced a new strategic plan for genomics research, "Charting a Course for Genomic Medicine from Base Pairs to Bedside." The plan produced in consultation with the research community over the past two and a half years envisions five areas of research: understanding the structure of genomes, understanding the biology of genomes, understanding the biology of disease, advancing the science of medicine, and improving the effectiveness of health care.
Consider a few facts. The human genome is around 3,000 Mb (megabase pairs). According to NHGRI, it took 13 years for all the sequencing power in the world to produce the first sequence of a human genome. In 2003 it took 100 machines to sequence a human-sized genome in three months. In 2011 it takes only one machine just five days to complete the sequence. This stunning advance in speed results from changes in technology that began in January 2008. Current efficiency of DNA sequencing leads to lower costs. (See graph below.)
The implications for patients are numerous, ranging from the potential for customized, gene-based care to major ethical and privacy dilemmas. The NHGRI plan calls for low-cost and highly accurate tools to sequence data "at the point of care." The NHGRI writes:
The plan also calls for new technologies to measure the interaction between the environment, behavior and genes and for routine clinical applications of genomic tools such as newborn genetic screening and other types of diagnostic screening. It also calls for electronic medical records systems that integrate family histories and genomic data to generate personalized diagnoses, treatments, and prevention plans.
Health consumers will need to familiarize themselves with genomic medicine so they can understand their personal risks, participate in clinical decisions, make the best use of new therapeutics and, if they so choose, modify their behaviors in response to genome-based health information. Legislators and policymakers must craft policies that continue to promote the confidentiality of participation in genomics research. Other policies will be needed to protect individual privacy and access to health coverage, and to encourage investment in genomic health technologies through intellectual property incentives.
Dr. Green says, "Our base-pairs-to-bedside plan maps the next steps in the herculean endeavor not only to discover medical secrets hidden within the human genomes, but to bring those discoveries to the practitioner and patients."
From these advances emerge several questions the NHGRI press release does not address:
- What if the patient resists or refuses genomic sequencing for privacy or other reasons?
- Would physicians be allowed to discontinue care for the patient?
- To what degree could a patient be forced to change his or her behavior?
- Could the health insurer drop coverage or increase premiums if the patient refused sequencing?
- Who is liable if the genomic sequence "foretells" a future that never happens?
Source: National Human Genome Research Institute, National Institutes of Health
Testing Newborns for Future Criminality
A Connecticut professor of law thinks newborns should be screened for inborn criminality. Jennifer Melien Brooks-CrozierMAOA-Low Genotype and Intervention Services for MAOA-Low Children."
The paper's abstract describes a 1993 study by Hans Brunner of the genetics of male members of "a large Dutch family who exhibited behaviors such as impulsive aggression, arson, and attempted rape...." These males had a mutant copy of a particular gene, which accounted for a deficiency of the enzyme monoamine ozidase A (MAOA). Dr. Brunner concluded that low MAOA leads to abnormal aggressive behavior.
However, the abstract continues, later studies determined that reduced MAOA through genetic mutation does not fully explain this aggressive behavior. Scientists in New Zealand found that childhood maltreatment combined with the mutant MAOA gene leads to violate aggression. On its own the gene mutation was insufficient.
Ms. Brooks-Crozier proposes that newborn genetic screening of infants be expanded to include a screening test for the MAOA-low genotype. She argues that these research studies "can and should be used to prevent violent crime and to preserve the sense of peace an safety that is the foundation of free, civilized societies." Furthermore, the abstract states:
The screening test would allow states to target a population of children at risk of criminal behavior. The intervention services - family education and counseling, home visits, parent support groups, and psychological and social work services - would prevent those at-risk children from suffering the maltreatment that would cause them to later develop aggressive, antisocial behavior.
The author acknowledges that there would be constitutional and policy implications of such a proposal, presents a cost-benefit analysis, and "ultimately concludes that it would pass constitutional muster and be a cost-effective public policy."
The Case for Newborn Screening for the MAOA-Low Genotype and Intervention Services for MAOA-Low Children," Jennifer Melien Brooks-Crozier, 2011.
Health IT: What You Don't Know Could Hurt You
The private sector has ventured into a controversial process that Congress set in motion. Last month GE Healthcare and Thomson Reuters announced "the ability to combine commonly used outcomes research data from the Thomson Reuters MarketScan Research Databases with electronic medical records data from GE Healthcare's Centricity Electronic Medical Records (EMR) solutions... ."
In short these two large corporations have joined forces to track and analyze the treatment received by patients. Outcomes research has proven controversial. The American Recovery and Reinvestment Act (ARRA, or "economic stimulus"), passed in February 2009, requires and funds "comparative effectiveness research" (CER) on selected medical treatments. The law also established a panel of 15 presidential appointees - the Federal Coordinating Council for Comparative Effectiveness Research - to determine which medical procedures to investigate for effectiveness.
Under the federal health care reform law ("Obamacare"), Congress renamed the Council the Patient-Centered Outcomes Research Institute. The CER requirement in the ARRA and the additional committees proposed by Obamacare may have led to the oft-cited August 7, 2009, "death panels" accusation made by former Alaska Governor Sarah Palin on her Facebook page.
Limits on treatment options appears to be one goal of the joint venture. GE Healthcare claims "researchers and physicians can now gain new insights into patient treatment protocols, better enabling them to determine the ideal course of treatment while avoiding expensive options that do not deliver results." What classifies as a "result" is not known. Researchers and analysts may report results that meet their own biases and preferences.
Such research is not new. For decades Thomson Reuters has provided de-identified insurance claims and prescription data to researchers to study the outcomes and effectiveness of medical treatments. However, the media release notes:
The addition of the de-identified patient data from GE Healthcare means a research study can link clams data that track the treatment received by a population of patients diagnosed with a condition such as hypertension, with clinical data on everything from a patient's body mass index, blood pressure, symptoms and more. With this joint solution, the research provides more specific evidence about the effectiveness of treatments, allowing clinicians and patients to make more informed decisions.
The companies have plans for extensive research using patient data. Just one year ago they demonstrated the broad linking of data at a conference in Atlanta, Georgia. They combined clinical data collected on 30 million individuals by more than 9,000 system users. The data included health insurance claims data and prescription data. The companies plan to provide customers with detailed research and analytical services. Bill Marder, senior vice president at Thomason Reuters, says:
We can now conduct studies that assess the effectiveness of medical treatments, prescription adherence, and disease management initiatives based on both a deep set of clinical data and extensive data on the complete healthcare experience of a patient. This includes all hospitalizations and ambulatory visits as well as all filled prescriptions, costs, and reimbursements.
Although outcomes research could lead to treatment restrictions, as Governor Palin warned - insurers and government agencies could refuse to reimburse doctors and hospitals for treatments classified as "ineffective" - the corporate news release made no mention of patient-consent requirements. The companies also assert "complete patient anonymity and privacy" with a claim that teams at both organizations "have developed an algorithm which enables the de-identification of patient data without loss of utility." However, no definitions of "de-identification" or "anonymity" were provided.
Subtitle D, Section 6301, Patient-Centered Outcomes Research,
Patient Protection and Affordable Care Act, March 23, 2010.
Health Freedom Watch is a monthly email newsletter published by the Citizens' Council for Health Freedom (formerly Citizens' Council on Health Care), a national nonprofit, educational organization whose mission is to support patient and doctor freedom, medical innovation and the right to a confidential patient-doctor relationship. Health Freedom Watch provides reports on national and state policies that impact citizens' freedom to choose their health-care treatments and practitioners, and to maintain their health privacy - including genetic privacy. Citizens' Council for Health Freedom (CCHF) is not affiliated with any other organization. © Citizens' Council for Health Freedom.