Skip to main content

Currently Skimming:

4 Issues in Genetic Counseling
Pages 146-184

The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.


From page 146...
... (Sophocles, Oedipus Rex) Genetic testing raises a broad range of questions and issues for those considering testing and for those offering the test: How great are the risks of the test?
From page 147...
... Other people who undergo genetic testing will be informed that a genetic disorder or genetic susceptibility has been identified in their fetus, their children, or themselves. Test results may be deeply troubling for those who receive a diagnosis of a genetic disorder or carrier status, raising fundamental questions of medical vulnerability, as well as personal and social image and identity.
From page 148...
... There is tremendous variability in genetic counseling as provided today and envisioned for the future. As genetic testing expands with the growth of new genetic tests, genetic counseling and education will need to adapt to new modes and settings for the delivery of genetics services, without sacrificing quality.
From page 149...
... When risks are revealed, especially for nontreatable disorders including late-onset disorders and for those identified with carrier status, referral to specialized genetic counselors will usually be desirable because of the complexity of the issues in counseling for identified risk. Specialized genetics professionals will also increasingly need to train other personnel to provide genetic testing and counseling services as part of their professional activities.
From page 150...
... Awareness of the Impediments to Effective Genetic Counseling Beyond the psychological consequences of receiving genetic testing information are the potential impacts on the family not only the individual, but also the partner, parents, grandparents, siblings, and children of the individual being tested or screened. The diagnosis of a genetic condition or the results of a genetic test often have repercussions for future childbearing decisions as well, although this is only one of many components of genetic counseling.
From page 151...
... Education and counseling include providing information and supportive counseling to people considering testing about what they need to know to decide whether to be tested risk status, the benefits and burdens of testing, the limitations of available testing methods, and the implications of the test results, including the psychosocial consequences of such testing. Education and counseling are particularly important for genetic screening procedures, such as prenatal diagnosis for advanced maternal age or carrier screening for CF of an individual with no previous family history of the disease (see Chapter 24.
From page 152...
... These biases may reflect the attitudes of health care providers about the nature and meaning of health and disease, the severity of genetic conditions and disorders, quality of life, the appropriateness of decisions related to genetic testing and counseling, acceptance of advice, and other issues of importance in genetics (Lin-Fu,1981; Kessler, 1992; Uba, 1992~. The use of language may be an important medium for the communication of values as well as facts in genetic counseling (see Box 4-11.
From page 153...
... In the values and language of cost-benefit analysis, prenatal genetic testing programs in which fewer than 50 percent of parents chose to terminate a fetus diagnosed with a genetic disorder are considered to be a "failure" (OTA, 1 992b)
From page 154...
... Most respondents did not consider more eugenic goals, such as improving the general health and vigor of the population, or reducing the number of carriers of genetic disorders in the population, as important. However, a significant number did not reject such goals as ones of secondary importance.
From page 155...
... A more negative or more positive description of a disorder may result from the orientation of providers, as well as from their objective in providing genetic counseling (Kessler, 19921. Individual values about genetic testing also vary.
From page 156...
... The Alliance of Genetic Support Groups (1993) worked with a variety of professional and consumer organizations to develop informed consent guidelines for research involving genetic testing; these have now been released by the Alliance.2 This joint
From page 157...
... Since genetic tests are being developed so rapidly, there will also be a need to ensure that this kind of information reflects the latest scientific knowledge. Because much of current genetic testing and related counseling now occurs in a research setting, there are important issues related to informed consent and other aspects of the protection of research subjects in large family research studies in genetics, often called genetic pedigree studies.
From page 158...
... For a 35-year-old pregnant woman, is a 1 in 250 chance of having a child with Down syndrome worth the risk of miscarriage of an unaffected fetus due to the prenatal diagnosis procedure? In these situations, choices can be made among various courses of action, based on the values and beliefs of those making the choices (Juengst, 19881.
From page 159...
... The sickle cell and Tay-Sachs carrier screening programs of the past provide valuable information on the importance of understanding the culture and values of the population being screened, and providing education and counseling tailored to that population, and of optimizing the settings in which screening occurs (see Chapters 1 and 21. Persons from different cultures, socioeconomic classes, and educational backgrounds may interpret and value the information provided through genetic testing and screening differently.
From page 160...
... The social and cultural meaning of class, race, ethnicity, and religion all impact on genetic testing and reproductive decision making (Rapp, 1988a,b, 1991, 19931. Although genetics services providers may believe that they are providing vital information essential to autonomous decision making, those receiving it might have no context or practical use for understanding the information being provided.
From page 161...
... Differences in language and culture can be important barriers in informed consent and in genetic counseling. For example, a recent survey of genetic counselors and nurses in genetics revealed that only 14 percent were fluent in a language other than English (OTA, 1992a)
From page 162...
... Genetic counseling takes place surrounding the process of genetic screening or genetic testing or following referral by physicians'based on signs and symptoms. Although each context for genetic counseling described below requires adherence to the basic principles described above- respect for autonomy, informed consent, balanced and accurate presentation of risks, and respect for privacy each context presents some particular challenges to client-centered counseling for the genetic counselor.
From page 163...
... another carrier, reproductive planning through prenatal diagnosis and selective abortion, artificial sperm insemination by donor, ova or embryo donation, adoption, surrogacy, or experimental procedures for preimplantation diagnosis. At present, most carrier screening takes place in the context of reproductive planning and often is conducted during pregnancy.
From page 164...
... The complexity of genetic counseling for CF carrier screening serves as an example of the challenges posed by carrier detection. Cystic fibrosis is highly variable in its severity, and severity cannot be predicted by genetic testing.
From page 165...
... Thus, education and counseling for persons identified as carriers might well come in two stages, supportive counseling first with the initial detection of carrier status and, later, more detailed genetic education and counseling, when the person has had an opportunity to evaluate the significance of the new information. In genetic counseling for carrier status, the person being tested, (the pro band)
From page 166...
... , Prenatal Diagnosis Some of the most difficult issues today in genetic diagnosis, testing, and screening surround prenatal diagnosis. The ability to diagnose genetic disorders far exceeds any ability to treat or cure them, and this situation is likely to prevail for a substantial period into the future.
From page 167...
... Some studies have raised concerns that the process of prenatal diagnosis interrupts the formation of the maternalinfant bonding, a process than has been called the "tentative pregnancy" (Rothman, 1986, 1992; Tymstra, 19911. In one study, interviews with 53 mothers or couples led them to conclude that decision making regarding prenatal diagnosis and the uncertainties related to reproductive decisions were most often dealt with by envisioning the various outcomes and speculating as to how others will view the decision, rather than by "rational decision making" (Lippman-Hand and Fraser, 1979a-d; Lippman, 1992a)
From page 168...
... studied the understanding of women participating in the MSAFP program in California; despite the brochure given to each pregnant woman and the opportunity for her to consent or refuse testing, the majority of women studied reported that they believed they had been told to have the test rather than informed about the existence of the test, and many did not understand that the test was a screening test to predict increased risk rather than a diagnostic test capable of identifying genetic disorders in a fetus. Some physicians may have problems in the mathematics required for correct interpretation of laboratory test results (Holtzman, 1992)
From page 169...
... Little is known about the extent to which knowing genetic predisposition will affect the acceptance of genetic testing or compliance with medical interventions. Earlier research showed that knowing the increased risk of carrying the Tay-Sachs disease gene among young people of Ashkenazi Jewish descent did not increase acceptance of genetic screening (Clow and Scriver, 1977~.
From page 170...
... Every client brings some knowledge of genetics, whether accurate or sufficient or not, to the genetic counseling session; well-informed clients are better prepared to consider the issues in genetic testing and counseling and to make informed decisions appropriate to their own values. Chapter 5 addresses the need for improved public genetics education to increase the understanding of genetics, including variation, kinship, and diversity so that citizens can make informed decisions about genetic testing and participate in public debate about the scientific, ethical, legal, and social issues related to genetics.
From page 171...
... This is especially crucial in genetic testing, since genetic information carries more personal, family, and social risks and burdens than many other kinds of medical information. Research to demonstrate high specificity and sensitivity will be especially critical before genetic tests for treatable disorders should be recommended by physicians or other health professionals.
From page 172...
... . More research is needed about what clients need to know in order to make an informed decision concerning genetic testing and about the most effective manner in which to educate patients in a nonbiased way, and about what standards should be set to ensure that all testing and screening programs meet requirements for informed consent.
From page 173...
... The committee believes that the more complex and significant the implications and decisions to be made including reproductive decision making and testing for untreatable late-onset disorders the more training will be needed to provide appropriate genetics education and counseling. The committee recommends additional research on issues in directiveness as genetic testing expands (see Chapter 91.
From page 174...
... Once developed, the results of this research should be widely disseminated not only throughout the professional genetics community, but among health care professionals generally. The committee also recommends that training in culturally appropriate language and delivery of genetics services be included in the preparation of all health and genetics professionals who are likely to provide genetic testing and counseling in the future.
From page 175...
... The committee believes that newborn screening is not the optimal way to determine genetic carrier status of the parents. If carrier status in the newborn or other children is revealed through genetic testing for treatable disease, parents should be informed prior to the screening of the newborn ( 1 )
From page 176...
... If there is a possibility that confidentiality may be breached, those circumstances should be fully disclosed in the informed consent process before carrier screening or any other type of genetic service. Under those rare circumstances where unauthorized disclosure of genetic information is deemed warranted, the genetic counselor should first try to obtain the permission of the person to release the information.
From page 177...
... Such research should include the psychosocial implications-both at the time of pregnancy and later in lifer decision making about selective abortion of a fetus diagnosed with a genetic disorder that may develop early in life. The committee believes that such research will provide important information for the design and evaluation of genetic counseling for prenatal diagnosis for the future both in primary care and in specialized genetics settings.
From page 178...
... Tests should be grouped with other tests that have the same implications and issues for genetic education and counseling so that people can make informed decisions about genetic testing; tests should not be grouped according to marketplace exigencies. Research will be required to develop and evaluate innovative methods for the grouping of genetic tests in a way that will make it possible for multiplex testing to embody the committee's basic principles on informed consent and the need for genetics education and counseling (see Chapters 2 and 81.
From page 179...
... 1993. How will primary care physicians incorporate genetic testing?
From page 180...
... American Journal of Human Genetics 7:323-334. Kessler, S
From page 181...
... 1991. Prenatal genetic testing and screening: Constructing needs and reinforcing inequities.
From page 182...
... National Institutes of Health (NIH) Workshop on Reproductive Genetic Testing: Impact on Women.
From page 183...
... . Genetic testing and mental illness.
From page 184...
... American Journal of Human Genetics 39:253-264. Wertz, D., et al.


This material may be derived from roughly machine-read images, and so is provided only to facilitate research.
More information on Chapter Skim is available.