Genetic Research and Testing – Introduction
During the past 20 years, advances in molecular biology and the Human Genome Project have had a tremendous influence on the field of genetics. After centuries of description, we are now on the eve of truly understanding the cellular processes of the human body. Up until the late 1980s, tracing the causes of genetic disease involved time-consuming linkage analysis of families by limited sets of genetic markers. A new age has dawned in the Human Genome Project – the mapping of all our 80,000-100,000 genes and the decoding of our entire DNA sequence of 3 billion base pairs. The Project has tremendously stimulated the development and dissemination of advanced DNA technology, and the first and substantial result has been a spectacular acceleration in finding out the causes of genetic disease. Nearly all common genetic diseases (150-200) and a large number of rarer ones (600-800) have been traced back to one or more defective genes (1500-2000). In most cases, causal mutations have been found, which has delivered a substantial improvement in diagnostic power.
Genetic testing can be done at many different times in one’s life. If parents are concerned they may be at risk to have a child with a genetic disorder, such as Tay Sachs Disease, they may undergo carrier identification testing. Women may undergo prenatal testing to determine whether their fetus has a genetic disorder, such as Downs Syndrome or Cystic Fibrosis. Newborn infants get genetic screening checks for various metabolic diseases, such as phenylketonuria (PKU). Late-onset disease testing determines if one has a genetic change that increases the risk for developing a disease, such as breast cancer or Huntington’s Disease. Genetic testing can determine whether a person will have a particular reaction towards a drug or medication, thus fostering patient-specific medical treatment. And forensics uses genetic identification (DNA fingerprinting) to solve crimes or identify a body.
Ethicists are struggling to keep pace with rapid advances in genetic research and technology. Reaching ethical conclusions about the new genetics is challenging for two reasons. First, it is inherently difficult to understand the subtleties of genetics and the wealth of data tumbling out the Human Genome Project. Second, it is almost impossible to foresee accurately the implications and consequences, short-term and long-term, intended and unintended of genetic research and technology.
On the issue of genetic testing for an individual, three ethical principles are relevant:
- Consent … Genetic information should only be obtained from persons when they have given genuine consent. Consent is genuine when the information has been communicated appropriately and agreement is given freely.
- Privacy … Every person is entitled to privacy. Privacy in the context of genetic testing can be understood as a person’s right not to be obliged to disclose information about his or her genetic characteristics.
- Confidentiality … Where an individual has chosen freely to disclose private genetic information, the disclosure should be treated as confidential. This means that genetic information should not be communicated to others or used for new purposes without the consent of the person disclosing the information.
At the level of public policy, the primary focus of debate on genetic testing concerns the use and storage of genetic information. Once genetic information has entered databases, it may be difficult to prevent disclosure or effect its removal. One area of concern is the use of genetic information by insurers. There is the risk of basing decisions on unreliable tests and the possibility of excluding vulnerable groups from obtaining insurance. Another area of concern is the use of genetic information in the workplace. The availability of such information may subject employees to unfair discrimination. On May 21 2008 Congress passed and the President signed the Genetic Information Non-discrimination Act which provides substantial protection for Americans against discrimination based on their genetic information when it comes to health insurance and employment.
Genetic Research and Testing – Religious Perspectives
A literature search of “religion”, “spirituality” and “genetic counseling” reveals remarkably little information as to how religious values contribute to genetic decisions or the attitudes and behaviors of healthcare providers. Questions of faith and spirituality generally arise in two ways in the genetics arena. The first has to do with the ethical concern that in our use of genetic technologies we are somehow “playing God”; the second encompasses the pastoral issues that accompany genetic testing and decision making, which include grief, suffering and loss.
The charge of “playing God” is often used to suggest that humans, through our genetic technologies, are exceeding the bounds of what we ought to be doing. As medical technology advances, much of what was once attributed to God, such as control over death and life, has been challenged by medical technology. We can now manipulate and sustain life to a considerable degree; as a result, we sometimes find ourselves confused about where our human capabilities and responsibilities end. At its root, the issue of how much one should control human life, disease, death and the genome is a moral question about how we perceive ourselves in the world and in relationship to God. The Judeo-Christian tradition offers a variety of perspectives. In one view, humans are perceived as God’s creation, part of the natural world, and thus subject to the same natural laws as other living things. In another, we stand apart from nature, as “co-creators” with God and made “in the image of God”, and by virtue of our reflective capacities and intelligence, empowered to manipulate nature. These two images often come into play in decisions at the beginning and end of life and are likely to surface in genetic decisions, depending on the decision maker’s personal attitudes, values, goals and beliefs.
Questions of faith and spirituality also arise in the context of genetic testing and decision making. Once the decision is made to go forward with genetic testing, there is always the risk that testing will bring unfavorable results. As in much of medicine, after receiving unexpected and disappointing news, first reactions may include shock, grief, guilt and confusion. Many will attempt to answer the universal questions: “Why me?” “Why now?” “What did I do wrong?” They may turn to their faith to ask, “Why is God doing this to me?” “What should I do now?” “What does God want me to do?” It is not uncommon for people to blame themselves when facing bad news, to assume the diagnosis is a consequence or punishment for some act of stupidity or moral flaw. They may blame God, angry that a supposedly powerful God has let this misfortune occur. Or they may simply be morally and theologically confused, wondering if and how their faith can help them. At such times of spiritual crisis, people often seek the advice and counsel of friends and spiritual advisers. Over time, in the context of their ongoing personal relationship with God, most people of faith ultimately arrive at acceptance and peace. Others struggle with this spiritual conflict all their lives.
RGT (reproductive genetic technology) presents ethical and religious challenges for Judaism, Christianity and Islam because prenatal genetic testing can lead to a decision to abort the fetus. The three monotheistic religions have different views on the beginning of human life and thus their teaching on abortion. For Judaism the fetus gains human status at forty days of gestation, once it is implanted and growing in the mother’s womb. For Islam the fetus gains human status by one hundred twenty days. For Roman Catholicism and Evangelical Christian denominations, human status begins at the moment of conception.
For Judaism and Islam, PGD (preimplantation genetic diagnosis) is an option which avoids fetal termination. This procedure involves screening the fertilized egg in vitro at the very early four-to-eight-cell stage. Many Jewish and Islamic theologians would say that the embryo at this early stage has elements of humanness but has not yet attained human identity. For many couples of these two faiths, PGD is a way to avoid giving birth to a child affected with a genetic condition that is not viewed as an abortion. In contrast, Roman Catholicism and Evangelical Christian denominations are opposed to PGD. From their religious point of view, also shared by Jewish Orthodoxy, avoiding having children with severe genetic conditions must be accomplished through some other means. That means is preconception genetic testing to check whether both members of an at-risk couple carry a single gene copy for the same genetic condition. If they do, adoption is one option.
Despite the official positions of the three monotheistic religions, there are differences of opinion in their members. Most liberal and mainline Protestant as well as liberal Jewish groups are not opposed to abortion and do not hold embryonic life to be sacred. They tend not to be advocates of reproductive genetic technologies, but neither are they opposed.
Despite differences of opinion among religious groups on RGT, religion has served as a prime contributor to discussion of whether and in what context a given application of genetic technology should occur. It serves as a qualitative check on the contention that just because a technology is possible it should be launched into use. The qualitative role implies that religious principles and beliefs are capable of imposing more than just an absolutist stamp on action. They can suggest alternatives based on the type of application envisioned and the circumstances involved. Judaism, Christianity and Islam have all welcome the therapeutic potential of genetic research in the prevention and cure of diseases as long as it does not bring harm to the individual or human society. All three religions look favorably on somatic cell gene therapy, aimed at restoring bodily cells, because it so directly carries forward the ethos of healing. All agree that germ-line gene therapy targeting adult reproductive cells, gametes, and/or early embryos poses overwhelming risks. Errors unintentionally introduced into the genome would be perpetuated into future generations. Beyond safety issues, all share a concern for fairness and equitable distribution of benefits and burdens, particularly for the less well-off. Ongoing dialogue among religious groups will help individuals and human society to face the many challenges presented by genetic research and technology.
Evans, J.H., “Religious Belief, Perceptions of Human Suffering, and Support for Reproductive Genetic Technology”, Journal of Health, Politics, Policy and Law, 31: 6, December 2006, 1047-1074
“Evans, J.H. & Hudson K., “Religion and Reproductive Genetics: Beyond Views of Embryonic Life”, Journal of the Scientific Study of Religion, 2007, 46:4, 565-581
Modell, S., “Genetic Reproductive Technologies in the Light of Religious Dialogue”, Zygon, 42:1, 163-181
Parker, M. & Hope, T, “Problem Cases in Medical Ethics”, The Medicine Publishing Company, 2005, 33:2, 22-24
Rosner, F., “Judaism, Genetic Screening & Genetic Therapy”, The Institute for Jewish Medical Ethics, 2008, http://jewishvisuallibrary.org/jsource/Judaism/genetic.html
White, M.T., “Religious and Spiritual Concerns in Genetic Testing & Decision Making”, The Journal of Clinical Ethics, Summer 2006, 158-167