Sarah Boslaugh - Genetic Testing

GENETIC TESTING

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Health and Medical Issues Today

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Human interest in heredity predates modern scientific understanding of genetics. For instance, speculation as to why children do (or sometimes don't) resemble their parents may be as old as humanity, and the practice of deliberately breeding plants or animals in order to produce desired characteristics was common long before anyone knew the process by which characteristics were passed from parent to child. Efforts to study the relationship between heredity and illness, such as the use of family histories to study patterns of disease among people who were closely related, also predate modern knowledge of genetics. Specific lab tests for genetic and chromosomal diseases started to appear in the mid-20th century, such as the newborn blood test for PKU (phenylketonuria). In the 1970s, lab tests were developed to identify the genetic characteristics associated with Tay-Sachs disease and sickle cell anemia. Today thousands of lab tests are available for different diseases and conditions, and tests are also available to identify some mutations that affect how individual patients may react to certain medicines.

While genetic testing is an important tool of modern medicine, the sheer number of tests available can seem overwhelming. While Genetic Testing is not meant to replace professional medical or genetic advice, it does explain the fundamentals of genetics in layman's terms and discusses many of the most common tests and conditions for which tests are available. Need for this kind of guide has increased with the advent of direct-to-consumer (DTC) companies that allow people to order genetic testing outside the context of medical care. This need is particularly great in the United States, where DTC companies are allowed to test for genetic characteristics associated with serious medical conditions such as breast cancer and Alzheimer disease, delivering the results directly to the individual tested. These issues are thoroughly discussed in Genetic Testing , as are the ethical and practical issues that may arise when genetic testing is performed outside the context of medicine.

Many people today also use genetic testing, typically ordered through DTC companies, to learn more about their ancestry. Few people ordering these services realize, however, how such testing is actually performed or the limitations of any conclusions that may be drawn from them. Genetic Testing explains (in general terms, because each DTC company uses its own proprietary methods) how genetic testing for ancestry is performed and highlights some of the controversies surrounding this type of testing. For instance, individuals who have sent identical samples to multiple companies have received differing reports about their ethnic heritage, and the pool of comparison samples for nonwhite individuals can be surprisingly small (and thus test results potentially less accurate than those for persons of European ancestry).

The increasing use of genetic testing in medicine raises many ethical issues. For instance, who should pay for it? Should insurers or employers be allowed to discriminate against people whose genetic makeup may predispose them to develop expensive or debilitating diseases? The rapid increase of knowledge in medical genetics also raises a host of questionsfor instance, if a new mutation is discovered that is associated with disease, who, if anyone, is responsible to notifying people who have that mutation, even if they were tested years prior to the identification of the mutation? Nonmedical uses of genetic testing also raise ethical issues: for instance, does the state have the right to demand a DNA sample from someone who is arrested but then released without charges, and should that individual's DNA be included in a database to be matched against evidence related to other crimes? These and many other issues are discussed in Genetic Testing , which offers an unbiased look at some ethical dilemmas related to genetic testing. Finally, the human impact of genetic testing is explored in five case studies that look at issues related to genetic testing and so-called cancer clusters, paternity testing, premarital genetic testing for individuals from high-risk groups, the reliability of information provided by DTC heritage testing services, and screening and diagnostic testing for Down syndrome.