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Hereditary breast and ovarian cancer syndrome: should we test adolescents?

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Introduction

With the identification of the breast/ovarian susceptibility genes BRCA1 and BRCA2 in the 1990s came the evolution of genetic testing for clinical purposes. Increased awareness of the familial susceptibility to breast and ovarian cancer and the availability of genetic testing for BRCA1 and BRCA2 mutations will undoubtedly result in more requests for genetic testing by adolescents and their parents. Direct consumer marketing for BRCA testing is also likely to contribute to a rise in requests for testing. The American Society of Clinical Oncology has recommended that clinical genetic predisposition testing be offered when: (1) the pretest probability of a positive result is high because of a strong family history of cancer or early age of diagnosis of cancer, (2) the test results can be adequately interpreted, and (3) the results will influence the medical management of the patient or a family member.1 With these factors in mind, the intent of respecting an adult patient's autonomy figures as one of the most important factors for testing adults, but protecting children and “doing no harm” should be the chief consideration in deciding to test a minor for a genetic cancer syndrome. This review discusses the hereditary breast and ovarian cancer syndrome, the medical justification of testing minors, and some of the ethical, psychological, and legal implications of genetic testing for adolescents.

Section snippets

Hereditary breast and ovarian cancer syndrome

Although family history is a significant risk factor for developing breast cancer, at the present time only about 5–10% of women with breast and ovarian cancer have a genetic predisposition. A high percentage of hereditary breast and ovarian cancers arise from mutations in the tumor suppressor genes BRCA1 and BRCA2. Mutations in these two genes account for 70–80% of hereditary breast cancer. Approximately 70% of familial ovarian cancer cases are caused by BRCA1 mutations and 20% by BRCA2. These

Medical benefits of testing

For adult women with a known BRCA mutation, preventive strategies including prophylactic surgery, chemoprevention, and increased surveillance are available to decrease their risk of developing breast or ovarian cancer. Mastectomy has been shown to decrease the incidence of breast cancer in women at high risk as well as to reduce breast cancer-related mortality.4., 5. Similarly, Rebbeck et al showed that prophylactic bilateral salpingo-oophorectomy (BSO) was associated with a large reduction in

Impact on reproductive decisions

A common reason cited by advocates of testing adolescents is that knowledge of their genetic status may assist them in making reproductive decisions. For example, adolescents and young adults who are BRCA mutation carriers may choose to have children earlier in life with the intent of later opting for prophylactic oophorectomy, or mastectomy. They may wish to discuss the feasibility of this plan with their physicians and partners.

It is now well established that greater parity and earlier age at

Ethical issues

In the absence of an anticipated benefit to the adolescent, testing for cancer susceptibility should be postponed until the adolescent is capable of making this decision, hence preserving her right of autonomy. Benkendorf et al looked specifically at patients' attitudes towards autonomy and confidentiality in reference to genetic testing.25 They agreed with previous authors that, in the context of BRCA1/2, autonomy refers to the patient's right to receive information about cancer risk, to

Psychological implications

There is concern that individual adults and adolescents, in particular, who undergo genetic testing, may suffer adverse psychological impact. Several studies have looked at the impact of BRCA1/2 mutation testing on individuals' psychological well being, and a few have addressed this same issue in adolescents. The studies described below, which include descriptive data as well as quantified results, do not seem to support such concerns.

A descriptive study by Lynch et al collected data on

Legal and financial/insurance issues

There has been an increasing trend to recognize the concept of the “emancipated minor,” in lieu of the historical trend of paternalism in decision-making. As Wertz et al describe, courts have begun to acknowledge that mature minors are able to make decisions about medical treatment, and have generally regarded age 15 as the age when minors can consent to medical interventions without parental consent.28 Many states permit adolescents to consent to medical treatment, typically on issues

Conclusion

The availability of genetic testing for mutations in the two genes associated with hereditary breast and ovarian cancer, BRCA1 and 2, may prompt adolescents, their parents, and/or physicians to consider testing. The American Society of Clinical Oncology recommends that genetic testing be offered to individuals with a strong family history or early age at diagnosis of cancer, but just how early should testing be done? Consideration of the patient's risk for cancer as well as the medical and

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    Synopsis: This review discusses some of the medical, ethical, psychological, and legal implications of offering genetic testing to adolescents with a family history of breast and ovarian cancer.

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