This is the 3rd post in DTC genetic tests. You could see prior post in DTC-Part I and DTC Part II. According several authors the four the major principles of bioethics are involved and offers and interesting frame of discussion. We are going to discuss briefly those issues below the light of medical ethics.
What are the major principles of medical ethics?
The commonly accepted principles of health care ethics include:
- the principle of respect for autonomy,
- the principle of nonmaleficence,
- the principle of beneficence, and
- the principle of justice.
Definition: Autonomy literally means self-rule or government, but has come to mean the ability to make individual choices and decisions. Any notion of moral decision making assumes that rational agents are involved in making informed and voluntary decisions. In health care decisions, our respect for the autonomy of the patient would, in common parlance, mean that the patient has the capacity to act intentionally, with understanding, and without controlling influences that would mitigate against a free and voluntary act. This principle is the basis for the practice of "informed consent" in the physician/patient transaction regarding health care. Western society has a strong tradition of individual rights and freedoms. Respecting autonomy is the primary concept that gives moral significance to rights and freedoms. Respecting autonomy means giving people the freedom to make choices and decisions for themselves. One argument supporting the development and availability of DTC genetic tests is promotion of individual autonomy and a 'right to know' about personal genetic make-up. People should be free to access their own genetic information, and these tests facilitate that freedom and right. Rights do not exist in a vacuum, and they are linked to duties and responsibilities. Individuals are free to obtain access to their genetic information, but this does not necessarily mean there is a 'right' to this information with a correlative responsibility placed on a third party to ensure it happens. Alternatively, people may be free to access this information because it relates to their own bodies, health and well-being, but still not have an enforceable 'right' to it. In either situation, both rights and freedoms are not unlimited. In reality, society limits autonomy, liberty and rights when there is danger of harm or risk to individuals or groups. Respecting people's autonomy is one positive duty in health care, but it is not without limits, and it should be balanced with potential harms to the self and/or others.
1. Respect for Autonomy
1. Respect for Autonomy
Definition: Non-maleficence means to “do no harm.” Physicians must refrain from providing ineffective treatments or acting with malice toward patients. This principle, however, offers little useful guidance to physicians since many beneficial therapies also have serious risks. The pertinent ethical issue is whether the benefits outweigh the burdens. The principle of nonmaleficence requires of us that we not intentionally create a needless harm or injury to the patient, either through acts of commission or omission. In common language, we consider it negligence if one imposes a careless or unreasonable risk of harm upon another.
2. The Principle of Nonmaleficence
2. The Principle of Nonmaleficence
Providing a proper standard of care that avoids or minimizes the risk of harm is supported not only by our commonly held moral convictions, but by the laws of society as well. In a professional model of care one may be morally and legally blameworthy if one fails to meet the standards of due care. The legal criteria for determining negligence are as follows:
- the professional must have a duty to the affected party
- the professional must breach that duty
- the affected party must experience a harm; and
- the harm must be caused by the breach of duty.
In addition, it would be difficult to verify to whom the sample belongs and there could be a danger that an individual would send in another person's biological sample, for example, that of a child or spouse (with or without that person's knowledge of the genetic testing that discuss previously in the home paternity testing). The laboratories themselves may or may not be certified to assure the reliability and accuracy of test results and the processes used to conduct the genetic analyses and glean results are not transparent, making assessment of reliability and validity difficult. Standards of sample collection and their processing may vary and lead to misinformation or mal-information, which could be harmful in itself and/or if people act on it.
Total genetic markers and mutations are not available yet, these markers may be linked to diseases and conditions. Just because a technology is possible, does not necessarily mean it should be offered at all or without limits. Although the technological imperative is viewed as strong, it is not absolute. The potential, or actual, benefits of any technology should be weighed against its potential, or actual, harms and risks to individuals, communities, and the wider public. With most predictive (or screening) tests, there is a margin of error.
The sensitivity is the ability of the test to identify correctly those who have the disease or condition. The specificity is the ability of a test to identify correctly those who do not have the disease or condition. The higher the sensitivity and specificity higher test accuracy. Currently, this information, specificity and sensitivity are not available for many DTC genetic tests. The rate of false positives and false negatives is unknown to the general public and general medical professionals. Without this information, it is not clear how reliable or valid many of these tests are.
Many of the disease associations are not established; therefore, their clinical significance and utility is unclear and debatable. The context in which DTC genetic tests are offered and accessed is very different from clinical genetics tests. The latter involves physicians, nurses and genetic counselors who are trained in helping people think through the implications of having versus not having a particular test, with known predictive value, reliability and validity for the individual and his/her family. The decision to take a DTC test can be made alone or on a whim, with no pre-test or post-test counseling, and the results are sent to the individual to be interpreted, often without the guidance of a physician or genetic counselor. This shift in context can be considered potentially, if not actually, harmful.
One reason people might choose to access genetic tests directly is to protect their confidentiality and privacy. They may want their genetic information to remain outside the realm of medical records and insurance companies. The reality might be different as consumers may be unaware of what could be done with their results. Some companies offering DTC genetic tests have privacy statements, but questions can be raised about third party access to private genetic information (whether de-identified or not) and use of it or genetic material in the development of further technologies. In contrast, having received DTC results, individuals may not fully realize their significance and could pass them on to an insurance company or employer, which could have harmful implications for them and their families. The potential harms of DTC genetic testing for individuals and their families are not insignificant, but should be considered in light of potential benefits.
Definition: Beneficence is action that is done for the benefit of others.
3. The Principle of Beneficence
3. The Principle of Beneficence
Beneficent actions can be taken to help prevent or remove harms or to simply improve the situation of others. The ordinary meaning of this principle is the duty of health care providers to be of a benefit to the patient, as well as to take positive steps to prevent and to remove harm from the patient. These duties are viewed as self-evident and are widely accepted as the proper goals of medicine.
These goals are applied both to individual patients, and to the good of society as a whole. For example, the good health of a particular patient is an appropriate goal of medicine, and the prevention of disease through research and the employment of vaccines is the same goal expanded to the population at large. It is sometimes held that nonmaleficence is a constant duty, that is, one ought never to harm another individual. Whereas beneficence is a limited duty. A physician has a duty to seek the benefit of any or all of her patients, however, the physician may also choose whom to admit into his or her practice, and does not have a strict duty to benefit patients not acknowledged in the panel.
This duty becomes complex if two patients appeal for treatment at the same moment. Some criteria of urgency of need might be used, or some principle of first come first served, to decide who should be helped at the moment. One benefit of DTC testing is that it might provide accurate results about genetic susceptibility and status regarding a specific disease or condition. True positive or true negative results would enable individuals to act on that information, e.g. making lifestyle, occupational or environmental changes, which could benefit them and aid prevention of certain diseases.
Though a true positive result may indicate a person has mutation and, therefore, is at elevated risk, it would not necessarily predict the time of onset or severity of a disease or condition. Individuals also may seek the advice of their physician about possible preventive measures, such as stopping smoking or altering diet and exercise, on the basis of such results, which would be beneficial.
Bringing people in to see their physician is double-edged as it requires more time, but may also open communication about genetics, genetic testing, and lifestyle choices that could provide overall benefit to individuals and their families. In this way, DTC genetic tests would be a means to a potentially beneficial end. On the other end of the spectrum, DTC tests allow freedom of access without necessarily requiring a medical or health care professional. Such tests also circumvent having these genetic results in medical records, which could be accessed by insurance companies and might mean higher (or lower) premiums.
Although the benefit of such freedom and testing may be questioned, it could be useful for people who do not fall into high risk categories and are, therefore, not eligible for more traditional clinical genetic testing services. Such tests could offer them feedback and insight into their genetic make-up, which might be beneficial. The benefits of DTC genetic testing fall mostly into the possible, rather than the probable range at present, and are minimal when weighed against the potential harms. One additional benefit would be to facilitate individual autonomy and choice.
Balancing Beneficence and Non-maleficence: One of the most common ethical dilemmas arises in the balancing of beneficence and non-maleficence. This balance is the one between the benefits and risks of treatment and plays a role in nearly every medical decision such as whether to order a particular test, medication, procedure, operation or treatment. By providing informed consent, physicians give patients the information necessary to understand the scope and nature of the potential risks and benefits in order to make a decision. Ultimately it is the patient who assigns weight to the risks and benefits. Nonetheless, the potential benefits of any intervention must outweigh the risks in order for the action to be ethical.
Justice in health care is usually defined as a form of fairness, or as Aristotle once said, "giving to each that which is his due."
4. The Principle of Justice
4. The Principle of Justice
This implies the fair distribution of goods in society and requires that we look at the role of entitlement. The question of distributive justice also seems to hinge on the fact that some goods and services are in short supply, there is not enough to go around, thus some fair means of allocating scarce resources must be determined. It is generally held that persons who are equals should qualify for equal treatment. This category of persons is equal with respect to this one factor, their age, but the criteria chosen says nothing about need or other noteworthy factors about the persons in this category. In fact, our society uses a variety of factors as a criteria for distributive justice, including the following:
- to each person an equal share
- to each person according to need
- to each person according to effort
- to each person according to contribution
- to each person according to merit
- to each person according to free-market exchanges
One of the most controversial issues in modern health care is the question pertaining to "who has the right to health care?" Or, stated another way, perhaps as a society we want to be beneficent and fair and provide some decent minimum level of health care for all citizens, regardless of ability to pay. The ethical principle of justice highlights the issues of access, equality and fairness regarding DTC genetic testing. Obtaining these tests is limited to those with computers and internet access and the knowledge/skills to use them.
People must have the financial means to order the tests. Both factors indicate DTC genetic testing is biased toward those with greater financial means, and those with fewer financial resources may find it more difficult to utilize these tests. This bias may be viewed as inequitable and unfair, particularly if the tests offer potential health benefits.
More broadly, DTC genetic tests may consume scarce resources. Individuals receiving these test results may not be able to understand or interpret them. Because DTC genetic tests do not generally offer genetic counseling, consumers may turn to their own primary care physicians for advice. These physicians are already under tremendous pressure, usually having only a few minutes per patient. Understanding and interpreting genetic information is often complex and time consuming, and requires specialist training. This is time taken away from other patients and duties.
Primary care providers may want, or feel a duty, to help patients interpret such results, but might not have sufficient time or skills to do so. This places increased pressure on the physician and practice staff, may be an unfair burden on time and other resources, and may be unfair to other patients. One might ask the broader question of whether the commercialization of genetic testing is appropriate and should be allowed. Whether the government has legal jurisdiction to regulate the sale of or advertising of DTC genetic tests, as well as the appropriateness of such regulation, has raised concern and stimulated debate. It could be argued that the free market will regulate itself, and if people do not want to purchase such tests, they are not being forced so to do. Leave the choice up to consumers. Yet, to make an informed choice, consumers need clear and accessible information about any test or product.
Furthermore, genetics' language may communicate a higher degree of certainty to the general public than it necessarily warrants. Such language in the advertising and results might lead people to think such tests are more reliable and accurate than they are at present. Given that these tests are offered and not federally regulated, how do we protect people from potentially false or misleading commercialization? Is the motive for developing and offering these tests for the good of people or commercial profit and gain or both? Protecting the public from unfair, unjust, and improper commercialization should be a priority. Analyzing DTC genetic tests based on the principle of justice highlights an inequitable and unfair bias toward people with the means to access and purchase them, potential unfair burden on scarce resources, and concerns around commercialization of such testing.
The door is still open to discuss. I can said that I really like the idea of DTC genetic test but we need to amplify our scope of knowledge in this field. I think is not time yet to introduce some genetic tests in this market, we need to wait to figure out deeply our individual genome. Open mind and critical thinking is the best way to afford all this new life.
Articles in internationally reviewed journals
Pray, L. DTC Genetic testing: 23andme, DNA Direct and Genelex. Nature Education 1(1), (2008)
Tom Beauchamp and James Childress, Principles of Biomedical Ethics (4th edition) (New York: Oxford University Press, 1994).
Hudson, K., et al. ASHG statement on direct-to-consumer genetic testing in the United States. American Journal of Human Genetics 81, 635–637 (2007)Katsanis, S. H., Javitt, G., & Hudson, K. A case study of personalized medicine. Science 320, 53–54 (2008)