Rationale for Genetic Screening

Screening for cancer susceptibility genes has the potential to reduce the burden of cancer by providing opportunities for tailored early detection or primary prevention interventions to at-risk individuals. It can also spare those who receive true-negative results the burden of unnecessary screening and prevention procedures. The success of this approach is dependent upon the availability of surveillance measures and preventive strategies with documented efficacy and limited risk. The widespread clinical application of genetic testing, however, also poses specific challenges, including the implications for other family members who may not be involved or interested in the receipt of genetic risk information, the consequences of labeling healthy individuals with a disease predisposition, and the profound social and cultural significance awarded to genetic traits. Our understanding of the genetic basis of disease, and the rapid evolution in the science of human genetics, is moving at such a pace as to challenge the ability of both families and medical professionals to process and communicate the information becoming available.

Several advisory bodies have issued guidelines for the application of genetic testing for cancer susceptibility to the clinical setting. In a statement adopted on March 1, 2003, the American Society of Clinical Oncology (ASCO) reaffirmed its commitment to the integration of cancer risk assessment and management into the practice of oncology. In this update of earlier guidelines, the society set forth a set of indications for clinical genetic testing, recommendations for counseling to accompany genetic testing, and a commitment to maintaining confidentiality of genetic information. At the same time, ASCO underscored the responsibility of the patient to communicate genetic test results to other family members. The ASCO statement supports the establishment of federal legislation to prevent discrimination on the basis of genetic status and urged public and private health insurance providers to cover genetic testing and counseling services. ASCO maintains its commitment to providing educational opportunities in genetics for healthcare providers.5

The American Society of Human Genetics (ASHG) also stated the importance of public and professional education to develop a responsible approach to genetic testing and supported the need for further research to determine optimal preventive strategies for individuals with a genetic predisposition to cancer.6 A position paper from the National Society of Genetic Counselors (NSGC) spells out in detail the components of the genetic testing process and stresses the need for a multidisciplinary approach, including genetic counselors, physicians, nurses, social workers, and behavioral scientists.7 As this field is moving so quickly, these recommendations continue to evolve, but constant is the need to protect the health and well-being of genetically susceptible individuals.

TABLE 25.1. Inherited cancer syndromes for which clinical testing is available.


Involved gene(s)

Associated cancers


BWS critical region

Embryonal tumors, Wilms' tumor, adrenocortical carcinoma,



hepatoblastoma, rhabdomyosarcoma, neuroblastoma, gastric teratoma

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