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How do they communicate or not communicate about their shared heritage? How do they decide who to tell and who not to tell within their family? Richly illustrated with the real experiences of individuals and families, Risky Relations is essential reading for anthropologists and sociologists of health and medicine, specialists in family and kinship, and health professionals concerned with the treatment and counselling of clients with genetic conditions. The lived impact of genetic technology on understanding within families with genetic conditions has never been systematically explored.
This book fills a major gap by placing ethical, medical and social debates surrounding this charged issue firmly in context. Passar bra ihop. In summary, genetic education and counseling includes identifying the most informative person in the family to test, which may be an affected family member rather than the individual seeking genetic services. In addition, counseling includes a discussion of the limitations of the test, all possible test outcomes, and the consequences of identifying a VUS.
Insurance coverage varies for cancer susceptibility testing, including multigene panel testing. In general, most individuals who meet specific criteria e. The ACA does not stipulate that follow-up care based on genetic test results be covered e. However, some insurance companies require that pretest genetic counseling be performed by a credentialed genetics provider before testing is authorized.
Before testing is ordered, it is important to verify costs and insurance coverage, including for Medicaid and Medicare patients. Medicare does not cover genetic testing if the patient has not had a cancer diagnosis associated with the pathogenic variants for which testing is ordered. In addition, unaffected individuals with Medicare are not covered for testing, even if they are tested for only a known familial pathogenic variant. Further, Medicare does not cover genetic counseling as a separately billable service. There is a risk of carriers passing on cancer pathogenic variants to offspring.
Assisted reproductive technology can be used for preimplantation genetic testing PGT and for prenatal cancer predisposition genetic testing using chorionic villus sampling and amniocentesis. However, with the advent of multigene panel testing, more individuals are being identified with single pathogenic variants in a broad array of genes that had been previously identified primarily in individuals with two copies of the pathogenic variant homozygotes. Thus, when an individual tests positive for one pathogenic variant in genes such as these, counseling about reproductive implications addresses not only the risks associated with autosomal dominant inheritance but also the potential risks of having a child with two pathogenic variants in the same gene biallelic that could result in a severe condition.
Therefore, assessing the tested individual's partner i. In light of this information, couples may consider PGT or prenatal testing. A proposed analytic framework for counseling carriers about reproduction options includes consideration of the following issues:[ 10 ]. In a study of patients with different hereditary cancer syndromes, most were unaware of PGT; however, the majority expressed interest in learning more about the availability of PGT. Disease-specific factors e. Genetic testing is highly specialized.
A given test is usually performed in only a small number of laboratories. There are also multiple molecular testing methods available, each with its own indications, costs, strengths, and weaknesses. Depending on the method employed and the extent of the analysis, different tests for the same gene will have varying levels of sensitivity and specificity. Even assuming high analytic validity, genetic heterogeneity makes test selection challenging. A number of different genetic syndromes may underlie the development of a particular cancer type.
For example, hereditary colon cancer may be due to familial adenomatous polyposis FAP , Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, or other syndromes. Each of these has a different genetic basis. In addition, different genes may be responsible for the same condition e.
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In some genes, the same pathogenic variant has been found in multiple, apparently unrelated families. This observation is consistent with a founder effect, wherein a pathogenic variant identified in a contemporary population can be traced back to a small group of founders isolated by geographic, cultural, or other factors. Other genes also have reported founder pathogenic variants. The presence of founder pathogenic variants has practical implications for genetic testing. Many laboratories offer directed testing specifically for ethnic-specific alleles. This greatly simplifies the technical aspects of the test but is not without limitations.
Allelic heterogeneity i. For example, though the general rule is that adenomatous polyposis coli APC pathogenic variants are associated with hundreds or thousands of colonic polyps and colon cancer of the classical FAP syndrome, some APC pathogenic variants cause a milder clinical picture, with fewer polyps and lower colorectal cancer risk. Pathogenic variants in a certain portion of the APC gene also predispose to retinal changes, for example, when pathogenic variants in a different region of APC predispose to desmoid tumors.
Thus, selection of the appropriate genetic test for a given individual requires considerable knowledge of genetic diagnostic methods, correlation between clinical and molecular findings, and access to information about rapidly changing testing options. These issues are addressed in detail in PDQ summaries on the genetics of specific cancers. Next-generation sequencing NGS and the removal of most patent barriers to diagnostic DNA sequencing [ 18 ] have resulted in the availability of multigene testing, which can simultaneously test more than 50 genes for pathogenic variants, often at costs comparable to single-gene testing.
These multigene panels can include genes with pathogenic variants that are associated with high risks of cancer and genes that confer moderate and uncertain risks. The multigene panels can be limited to specific cancer types e. This type of testing has both advantages and disadvantages, and much of the information presented in this section is not based on empirical data but rather on commentaries.
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ASCO has stressed the importance of genetic counseling to ensure patients are adequately informed about the implications of this type of testing and recommends that tests be ordered by cancer genetic professionals. Unlike in-person, single-gene pretest genetic counseling models, these approaches have not been examined for outcomes of counseling such as comprehension, satisfaction, psychosocial outcomes, and testing uptake. Table 3 summarizes recommendations from ASCO on elements of pretest genetic counseling and informed consent for germline cancer genetic testing.
The range of results from NGS multigene panels is emerging in both data from clinical and laboratory series. Several of the studies are collaborations between the two. There are several important caveats about the research that has been conducted so far with regard to multigene testing:.
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In high-risk individuals who meet criteria for hereditary cancer genetic testing but in whom no pathogenic variant was identified from single-gene testing, panel testing may identify other clinically actionable variants. Selected reports from to , which included 1, to 10, tested individuals, showed variation in pathogenic variant and VUS rates.
A large study published by a commercial laboratory included more than , individuals who were tested with a gene panel between and Results from multigene tests have several possible outcomes, including the following:[ 19 ]. Results can also reveal more than one finding given that multiple genes are being tested simultaneously and the elevated rate of VUS. Utilizing multigene panels can be complex but may offer advantages over sequential testing strategies. First, in some types of cancer, several genes can be associated with specific phenotypes; therefore, testing for all genes associated with a given phenotype can save both time and money.
However, there can be challenges to employing this testing approach. Clinical laboratories now offer a varying array of clinical cancer susceptibility gene panels. Other challenges of interpreting multigene test results include higher rates of VUS than with single-gene testing the rate of VUS increases with the number of genes tested ,[ 24 ] higher rates of VUS in some minority populations,[ 32 , 42 ] and the detection of variants in genes associated with uncertain cancer risks.
Overall, there is insufficient evidence to determine superiority of multigene testing over phenotype-guided testing or sequential gene testing. Another important consideration is that multigene tests may include genes in which pathogenic variants are associated with moderate or uncertain penetrance. Management of individuals with pathogenic variants in such genes can present additional challenges, particularly when expert consensus or evidence-based recommendations are not available.
Moreover, there may be limited or no evidence to support changes to medical management based on the level of risk or uncertain risk; however, management may still be affected by family history. Government regulation of genetic tests to date remains extremely limited in terms of both analytic and clinical validity with little interagency coordination. CLIA regulations address personnel qualifications, laboratory quality assurance standards, and documentation and validation of tests and procedures.
Genetic tests are considered high complexity, which indicates that a high degree of knowledge and skill is required to perform or interpret the test. Laboratories conducting high complexity tests must undergo proficiency testing at specified intervals, which consists of an external review of the laboratory's ability to accurately perform and interpret the test. In regard to analytic validity, genetic tests fall into two primary categories; test kits and laboratory-developed tests previously called home brews. Test kits are manufactured for use in laboratories performing the test and include all the reagents necessary to complete the analysis, instructions, performance outcomes, and details about which genetic variants can be detected.
The U. Food and Drug Administration FDA regulates test kits as medical devices; however, despite more than 1, available genetic tests, there are fewer than ten FDA-approved test kits. Laboratory-developed tests are subject to the least amount of oversight, as neither CLIA nor the FDA evaluate the laboratories' proficiency in performing the test or clinical validity relative to the accuracy of the test to predict a clinical outcome. These small molecules are used to conduct laboratory-developed tests but can also be made by the laboratory.
For laboratory-developed tests utilizing manufactured commercially available ASRs, the FDA requires that the test be ordered by a health professional or other individual authorized to order the test by state law. However, this regulation does not distinguish between health providers caring for the patient or health providers who work for the laboratory offering the test.
In addition to classical clinical genetic tests is the regulatory oversight of research genetic testing.
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Laboratories performing genetic testing on a research basis are exempt from CLIA oversight if the laboratory does not report patient-specific results for the diagnosis, prevention, or treatment of any disease or impairment or the assessment of the health of individual patients. In addition, there is no established mechanism that determines when a test has sufficient analytic and clinical validity to be offered clinically.
Evidence regarding the implications of this narrow regulatory oversight of genetic tests is limited and consists predominantly of laboratory director responses to quality assurance surveys. Eight percent of laboratories did not employ and were not affiliated with doctoral-level genetics professionals. Sixty-three percent of laboratories provided an interpretation of the test result as part of the test report. Sixteen percent of laboratories reported no specialty area certification; those without specialty certification represented laboratories with the most volume of tests performed and offered the most extensive test selection.
The most frequent reason cited for lack of proficiency testing participation was lack of available proficiency testing programs. Department of Health and Human Services Secretary's Advisory Committee on Genetics, Health, and Society has published a detailed report regarding the adequacy and transparency of the current oversight system for genetic testing in the United States. Most genetic testing for cancer and other health risks is offered by health care providers on the basis of a patient's personal history, family history, or ethnicity.
Increasingly, however, individuals can order genetic testing through DTC companies without the input of health care providers. DTC tests may provide information about ancestry, paternity, propensity toward certain physical traits, risk of adverse drug reactions, and disease risks. In , the FDA provided clearance for a large DTC company 23andMe to market carrier screening for Bloom syndrome, which is associated with increased cancer risks in homozygotes as well as other phenotypic features.
Subsequently, DTC carrier testing for several conditions became available. In , the FDA allowed 23andMe to market DTC tests for ten diseases or conditions including late-onset Alzheimer disease, Parkinson disease, and hereditary thrombophilia. Thus, the false-negative rate due to untested pathogenic variants as well as other gene abnormalities is high. Clinical confirmation entails repeating the test in a CLIA-certified lab, as well as individual review and verification of the result by laboratory personnel.
However, a negative result does not rule out other hereditary factors or account for other clinical indicators, genetic and nongenetic, of increased cancer risk.
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For high-risk individuals in particular i. In the past, several DTC companies offered only single nucleotide polymorphism SNP -based testing to generate information about health risks, including risks of cancer. As a result, predicted disease risks from different DTC companies may yield different results. For example, a sample comparison of SNP-based risk prediction from two different companies for four different cancers yielded relative risks of 0. Another area of investigation is whether predicted disease risks from SNP testing are consistent with family history—based assessments.
Studies using data from one commercial personal genomic testing company revealed that there was generally poor concordance between the SNP and family history risk assessment for common cancers such as breast, prostate, and colon. Studies have begun to examine whether SNP testing could be used together with other established risk factors to assess the likelihood of developing cancer. For example, adding SNP data to validated breast cancer prediction tools such as those included in the National Cancer Institute's Breast Cancer Risk Assessment Tool based on the Gail model [ 62 ] may improve the accuracy of risk assessment.
These findings underscore that SNP testing has not been validated as an accurate risk assessment tool and does not replace the collection, integration, and interpretation of personal and family history risk factor information by qualified health care professionals. In addition, consumers who submit their DNA to a DTC lab may have access to their raw sequence data and may consult with other companies, websites, and open-access databases for interpretation. Some factors to consider when determining the accuracy and utility of sequence data for cancer or other disease risk assessment include the sequencing depth of the genes of interest, whether large rearrangements or gene deletions would be detected, and whether or how positive results are confirmed e.
For example, if sequencing depth is low or rare variants cannot be detected, then there is a concern about false-negative results. There is also a risk that sequence changes will be erroneously labeled as pathogenic when confirmatory testing or different interpretative approaches would determine that the variant identified is benign false positive.
In addition, as evidence evolves and variants are reclassified, consumers need to be aware of the process the DTC lab has, if any, for updating information and re-contacting consumers with revised interpretations.
There may be potential benefits associated with DTC testing. DTC marketing and provision of genetic tests may promote patient autonomy. Given the complexity of genomic testing, several professional organizations have released position statements about DTC genetic testing. For example, in , ASCO published a position statement outlining several considerations related to DTC cancer genomic tests, including those mentioned above.
ASCO's position statement on genetic and genomic testing for cancer susceptibility reinforces the importance of provider education given the complexity of genomic testing and interpretation and discusses their recommendations for regulatory review of genomic tests, including those offered by DTC companies. In , a statement by the American College of Medical Genetics and Genomics about DTC genetic testing similarly endorsed the involvement of qualified genetics professionals in the processes of test ordering and interpretation.
Informed consent can enhance preparedness for testing, including careful weighing of benefits and limitations of testing, minimization of adverse psychosocial outcomes, appropriate use of medical options, and a strengthened provider-patient relationship based on honesty, support, and trust. Consensus exists among experts that a process of informed consent should be an integral part of the pretest counseling process. The most commonly cited concern is the possibility of insurance or employment discrimination if a test result, or even the fact that an individual has sought or is seeking testing, is disclosed.
This federal law provides protections related to health insurance and employment discrimination based on genetic information. However, GINA does not cover life, disability, or long-term-care insurance discrimination. Finally, in the case of genetic testing, medical information given to one individual has immediate implications for biologic relatives. These implications include not only the medical risks but also disruptions in familial relationships. The possibility for coercion exists when one family member wants to be tested but, to do so optimally, must first obtain genetic material or information from other family members.
Inclusion of an informed consent process in counseling can facilitate patient autonomy. Many clinical programs provide opportunities for individuals to review their informed consent during the genetic testing and counseling process. Some programs use a second informed consent process prior to disclosure to the individual of his or her genetic test results. This process allows for the possibility that a person may change his or her mind about receiving test results. After the test result has been disclosed, a third informed consent discussion often occurs.
Obtaining written permission to provide the test result to others in the family who are at risk can avoid vexing problems in the future should the individual not be available to release his or her results. Major elements of an informed consent discussion are highlighted in the preceding discussion. The critical elements, as described in the literature,[ 1 , 2 , 81 , 82 ] include the following:. All individuals considering genetic testing should be informed that they have several options even after the genetic testing has been completed.
They may decide to receive the results at the posttest meeting, delay result notification, or less commonly, not receive the results of testing. They should be informed that their interest in receiving results will be addressed at the beginning of the posttest meeting see below and that time will be available to review their concerns and thoughts on notification.
It is important that individuals receive this information during the pretest counseling to ensure added comfort with the decision to decline or defer result notification even when test results become available. Genetic testing for pathogenic variants in cancer susceptibility genes in children is particularly complex. While both parents [ 83 ] and providers [ 84 ] may request or recommend testing for minor children, many experts recommend that unless there is evidence that the test result will influence the medical management of the child or adolescent, genetic testing should be deferred until legal adulthood age 18 y or older because of concerns about autonomy, potential discrimination, and possible psychosocial effects.
The ASCO statement on genetic testing for cancer susceptibility maintains that the decision to consider offering childhood genetic testing should take into account not only the risk of childhood malignancy but also the evidence associated with risk reduction interventions for that disorder. Special considerations are required when genetic counseling and testing for pathogenic variants in cancer susceptibility genes are considered in children.
The first issue is the age of the child. Young children, especially those younger than 10 years, may not be involved or may have limited involvement in the decision to be tested, and some may not participate in the genetic counseling process. In these cases, the child's parents or other legal surrogate will be involved in the genetic counseling and will ultimately be responsible for making the decision to proceed with testing. The majority of children in this study felt that they should have the right to make the final decision for genetic research participation, although many would seek input from their parents.
Unfortunately cognitive and psychosocial development may not consistently correlate with the age of the child. Another complicating factor includes potential risks for discrimination. Refer to the Employment and Insurance Discrimination section in the Ethical, Legal, and Social Implications section of this summary for more information.
The consequences of genetic testing in children have been reviewed. Genetic testing could interfere with the development of self-concept and self-esteem. Children may also be at risk of developing feelings of survivor guilt or heightened anxiety. All children are especially susceptible to not understanding the testing, results, or implications for their health.
As children mature, they begin to have decreased dependency on their parents while developing their personal identity. This can be altered in the setting of a serious health condition or an inherited disorder. Older children are beginning to mature physically and develop intimate relationships while also changing their idealized view of their parents. All of this can be influenced by the results of a genetic test. In summary, the decision to proceed with testing in children is based on the use of the test for medical decision making for the child, the ability to interpret the test, and evidence that changes in medical decision making in childhood can positively impact health outcomes.
In addition, careful attention to intrafamilial issues and potential psychosocial consequences of testing in children can enable the provider to deliver support that facilitates adaptation to the test result. Refer to the PDQ summaries on Genetics of Breast and Gynecologic Cancers; Genetics of Colorectal Cancer; and Genetics of Endocrine and Neuroendocrine Neoplasias for more information about psychosocial research in children being tested for specific cancer susceptibility gene pathogenic variants.
Genetic counseling and testing requires special considerations when used in vulnerable populations. In , the American Society of Human Genetics published a position statement on the ethical, legal, and psychosocial implications of genetic testing in children and adolescents as a vulnerable population. Specific to genetic testing, the International Society of Nurses in Genetics further expanded the definition of vulnerable populations to also include individuals with hearing and language deficits or conditions limiting communication for example, language differences and concerns with reliable translation , cognitive impairment, psychiatric disturbances, clients undergoing stress due to a family situation, those without financial resources, clients with acute or chronic illness and in end-of-life, and those in whom medication may impair reasoning.
Genetic counseling and testing in vulnerable populations raises special considerations. The aim of genetic counseling is to help people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease, which in part involves the meaningful exchange of factual information. In particular, in circumstances of cognitive impairment or intellectual disability, special attention is paid to whether the individual's legally authorized representative should be involved in the counseling, informed consent, and testing process. Providers need to assess all patients for their ability to make an uncoerced, autonomous, informed decision prior to proceeding with genetic testing.
Populations that do not seem vulnerable e. Alteration of the genetic counseling and testing process may be necessary depending on the situation, such as counseling and testing in terminally ill individuals who opt for testing for the benefit of their children, but given their impending death, results may have no impact on their own health care or may not be available before their death. In summary, genetic counseling and testing requires that the health care provider assess all individuals for any evidence of vulnerability, and if present, be sensitive to those issues, modify genetic counseling based on the specific circumstances, and avoid causing additional harm.
The complexity of genetic testing for cancer susceptibility has led experts to suggest that careful, in-depth counseling should precede any decision about the use of testing, in keeping with the accepted principles for the use of genetic testing. Qualitative and quantitative research studies indicate that families hold a variety of beliefs about the inheritance of characteristics within families; some of these beliefs are congruent with current scientific understanding, whereas others are not.
Because behavior is likely to be influenced by these beliefs, the usefulness of genetic information may depend on recognizing and addressing the individual's preexisting cognitions.
This process begins with initial discussion and continues throughout the genetic counseling process. An accurate assessment of psychosocial functioning and emotional factors related to testing motivation and potential impact and utilization is an important part of pretest counseling. People have various coping strategies for dealing with stressful circumstances such as genetic risk. Identifying these strategies and ascertaining how well or poorly they work will have implications for the support necessary during posttest counseling and will help personalize the discussion of anticipated risks and benefits of testing.
Taking a brief history of past and current psychiatric symptoms e. In such cases, further psychological assessment may be indicated. In addition, cognitive deficits in the person being counseled may significantly limit understanding of the genetic information provided and hinder the ability to give informed consent and may also require further psychological assessment. Emotional responses to cancer risk may also affect overall mood and functioning in other areas of life such as home, work, and personal health management, including cancer screening practices.
Since behavioral factors influence adherence to screening and surveillance recommendations, consideration of emotional barriers is important in helping a person choose prevention strategies and in discussing the potential utility of genetic testing. The discussion of issues such as history of depression, anxiety, and suicidal thoughts or tendencies requires sensitivity to the individual. The individual must be assured that the counseling process is a collaborative effort to minimize intrusiveness while maximizing benefits.
Determining whether the individual is currently receiving treatment for major psychiatric illness is an important part of the counseling process. Consultation with a mental health professional familiar with psychological assessments may be useful to help the provider develop the strategies for these discussions. It also may be beneficial for the individual to be given standard psychological self-report instruments that assess levels of depression, anxiety, and other psychiatric difficulties that he or she may be experiencing.
This step provides objective comparisons with already established normative data. In addition to the clinical assessment of psychological functioning, several instruments for cancer patients and people at increased risk of cancer have been utilized to assess psychological status. Psychological assessments are an ongoing part of genetic counseling. Some individuals with symptoms of increased distress, extreme avoidance of affect, or other marked psychiatric symptoms may benefit from a discussion with, or evaluation by, a mental health professional. It may be suggested to some people generally, a very small percentage of any population that testing be postponed until greater emotional stability has been established.
In addition to making an assessment of the family history of cancer, the family as a social system may also be assessed as part of the process of cancer genetic counseling. Hereditary susceptibility to cancer may affect social interactions and attitudes toward the family.
In assessing families, characteristics that may be relevant are the organization of the family including recognition of individuals who propose to speak for or motivate other family members , patterns of communication within the family, cohesion or closeness of family members or lack thereof , and the family beliefs and values that affect health behaviors. Ethnocultural factors may also play an important role in guiding behavior in some families.
Assessment also evaluates the impact of the family's prior experience with illness on their attitudes and behaviors related to genetic counseling and testing. Prior experience with cancer diagnosis and treatment, loss due to cancer, and the family members' interaction with the medical community may heavily influence attitudes toward receiving genetic information and may play a major role in the emotional state of individuals presenting for genetic services.
The practitioner may use the above framework to guide inquiries about the relationship of the individual to 1 the affected members of the family or 2 others who are considering or deciding against the consideration of genetic counseling or testing. Inquiries about how the family shares or does not share information about health, illness, and genetic susceptibility may establish whether the individual feels under pressure from other family members or anticipates difficulty in sharing genetic information obtained from counseling or testing.
Inquiries about the present health new diagnoses or deaths from cancer or relationship status divorce, marriage, grieving of family members may inform the provider about the timing of the individual's participation in counseling or testing and may also reveal possible contraindications for testing at present. In addition to using a pedigree to evaluate family health history, tools such as the genogram and ecomap can provide specific information regarding the nature of interpersonal relationships within the family and the connections with social networks outside of the family.
Evidence from a study of persons from 38 Lynch syndrome—affected families suggested that the timing of genetic counseling and testing services may influence psychological test-related distress responses. Specifically, family members in the same generation as the index case were more likely to experience greater test-related distress with increasingly longer lengths of time between the index case's receipt of MMR pathogenic variant results and the provision of genetic counseling and testing services to family members.
However, it was unclear whether time lapses were due to a delay in the index case communicating test results or the family member choosing to delay genetic testing, despite being aware of the index case's results. More specific information about family functioning in coping with hereditary cancers can be found in the psychosocial or counseling sections of PDQ summaries on the genetics of specific types of cancer. Exploration of potential risks, benefits, burdens, and limitations of genetic susceptibility testing.
There is substantial evidence that many people do not understand the potential limitations of genetic testing and may give too much weight to the potential benefits. It may be helpful to ask individuals to identify their perceptions about the pros and cons of testing as part of this discussion.
In the absence of a known pathogenic variant in the family, a negative test result is not informative. In this situation, the tested person's risk status remains the same as it was prior to testing. One study of women with an uninformative BRCA test result found that most women understood the implications of the test result, and it did not alter their intention to undergo a high-risk screening regimen.
Subsequent research, however, may provide information about the variant's effect or lack of effect on cancer risk. The primary component of the posttest session is result notification.
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An individual may change his or her mind about receiving results, however, until the moment of results disclosure. Therefore, one typically begins the disclosure session by confirming that test results are still desired. Some people may decline or delay receipt of test results. The percentage of people who will make this decision is unknown. Such people need ongoing follow-up and the opportunity to receive test results in the future. Once confirmed, people appreciate direct, immediate reporting of the results; they often describe the wait for results as one of the most stressful aspects of undergoing testing.
Sometimes this precludes all but the briefest discussion at the initial posttest visit. Usually, individuals who have been properly prepared through the pretest counseling process do not exhibit disabling distress. Although it is rare that an acute psychological reaction will occur at disclosure, it is useful for providers of genetic test results to establish a relationship with a mental health provider who can be consulted should extreme reactions occur or who can be available by referral for people seeking further exploration of emotional issues.
Either at the time of disclosure or shortly thereafter, a session for the provider and the individual to consider the genetic, medical, psychological, and social ramifications of the test result is advisable. Despite having extensive pretest education, people may still be confused about the implications and meaning of the test results. Examples of frequently documented misconceptions include the belief that a positive result means that cancer is present or certain to develop; the belief that a negative result means that cancer will never occur; and failure to understand the uncertainty inherent in certain test results, as when only a limited gene panel was examined.
Regarding medical implications, it is important to inform the person of risk implications and management options for all of the cancer types associated with an inherited syndrome and to revisit options for risk management. Posttest counseling may include consideration of the implications of the test results for other family members. It has been suggested that some individuals affected by an inherited disorder agree to have genetic testing performed in order to acquire information that could be shared with family members.
There is evidence that implementation of a follow-up counseling program with the index patient, after test results are revealed, will significantly increase the proportion of relatives informed of their genetic risk. Follow-up counseling may include telephone conversations with the index patient verifying which family members have been contacted and an offer to assist with conveying information to family members. Written materials, brochures, or personal letters may aid people in informing the appropriate relatives about genetic risk.
When a test result is negative, the posttest session may be briefer. It is important, however, to discuss genetic, medical, and psychological implications of a negative result in a family with a known pathogenic variant. For example, it is essential that the person understand that the general population risks for relevant cancer types still apply and that the person's individual risk of cancer may still be influenced by other risk factors and family history from the other side of the family.
Furthermore, people may be surprised to feel distress even when a test is negative.
Posttest results discussion of such distress may lead to referral for additional counseling in some cases. Many individuals benefit from follow-up counseling and consultation with medical specialists after disclosure of test results. This provides an opportunity for further discussion of feelings about their risk status, options for risk management including screening and detection procedures, and implications of the test results for other family members. The final chapter ings of an ethnographic study of families draws together some of the cross-cutting with a range of genetic disorders who themes of the preceding chapters and have attended genetic clinics in the UK.
This book, or at least may arise for families who have to deal my reading of it, suggests that it is some- with a genetic disorder. It is an explo- Unlike other work in this area for ration of the concepts of family and example Finkler which seeks to kinship, of the ways in which relatedness simplify the issues faced by family mem- in its many guises is negotiated by differ- bers who are at-risk of a genetic disease, ent actors for different purposes. It is the Risky Relations focuses upon the com- problematising of these concepts that plexities of this situation in a series of makes this book a particularly interest- chapters which look at: the ways in ing read.
They stress the While the structure of the book neces- need to pay attention to the continuities sitates that these issues are addressed between the past and the present, not in self-contained chapters, the authors only in clinical medicine, but also in the argue that, in reality, they are inter- ways in which we social scientists engage connected, and this is illustrated by the with these new technologies.
However, this two come along together. This book makes for a unashamedly partisan in propounding stimulating read, it is elegantly written, their critical view: they want to hold to refreshingly jargon free and manages to account the prevailing orthodoxy which make its undoubtedly complex subject has held sway for at least 20 years. There have been many important They say that you cannot always tell a critical articles, of course a few of which book by its cover and this is the case are reproduced in the Navarro-Muntaner with Risky Relations.
This is a good book and significant books and collec- book with a horrible cover but, the tions, mostly from a political economy artwork not withstanding, it does adorn perspective, addressing more limited my bookshelf and will be a welcome objectives see Drache and Sullivan addition to my reading lists. But while each of these has its strengths and offers some impor- Reference tant insights, they are not an organised resource and reference point in the way Finkler, K.
Philadelphia: from separate publishers, appear to University of Pennsylvania Press. Now in these two collections, a wide Navarro, V. Political range of authors, drawing heavily, but by and Economic Determinants of Population no means exclusively, on experiences Health and Well-being — Controversies and data from the poorest developing and Developments. NY: Baywood countries, conclude that not only is there Publishing Company, Related Papers.