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Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast Cancer Syndromes

Table 10. Predictors Associated with Uptake of Genetic Testing (GT) continued...

In one study, participants who told children younger than 13 years about their carrier status had increased distress, and those who did not tell their young children experienced a slight decrease in distress. Communication with young children was found to be influenced by developmental variables such as age and style of parent/child communication.[172]

Prenatal diagnosis and preimplantation genetic diagnosis

The possibility of transmitting a mutation to a child may pose a concern to families affected by history of breast/ovarian cancer (HBOC),[177] perhaps to the extent that some carriers may avoid childbearing.[178,179] These concerns also may prompt women to consider using prenatal diagnosis methods to help reduce the risk of transmission.[177,180] Prenatal diagnosis is an encompassing term used to refer to any medical procedure conducted to assess the presence of a genetic disorder in a fetus. Methods include amniocentesis and chorionic villous sampling (CVS).[181,182] Both procedures carry some risk of miscarriage and some evidence suggests fetal defects may result from using these tests.[181,182] Moreover, discovering the fetus is a carrier for a genetic defect may impose a difficult decision for couples regarding pregnancy continuation or termination. An alternative to these tests is preimplantation genetic diagnosis (PGD), a procedure used to test fertilized embryos for genetic disorders prior to uterine implantation,[177,183,184] thereby avoiding the potential dangers associated with amniocentesis and CVS and the decision to terminate a pregnancy. Using the information obtained from the genetic testing, potential parents can decide whether or not to implant. PGD can be used to detect mutations in hereditary cancer predisposing genes, including BRCA.[177,180]

In the United States, a series of studies have evaluated awareness, interest (e.g., would consider using PGD), and attitudes related to PGD among members of Facing Our Risk of Cancer Empowered (FORCE), an advocacy organization focused on persons at increased risk of HBOC.[177,180,185] The first study was a Web-based survey of 283 members,[177] the second included 205 attendees of the 2007 annual FORCE conference,[180] and the third was a Web-based survey of 962 members.[185,186] These studies have documented low levels of awareness, with 20% to 32% of study respondents reporting having heard of PGD prior to study participation.[180,185] With respect to interest in PGD, the first study [177] found only 13% of women would be likely to use PGD, whereas, 33% of respondents in the subsequent FORCE studies reported that they would consider using PGD.[180,185] In the third FORCE-based study (n = 962),[185] multivariable analysis revealed PGD interest was associated with the desire to have more children, having previously had any prenatal genetic test, and previous awareness of PGD. Attitudinal predictors of interest in PGD included the following:

  • Agreement that others at risk of HBOC should be offered PGD.
  • The belief that PGD is acceptable for persons at risk of HBOC.
  • The belief that PGD information should be given to individuals at risk of HBOC.
  • Endorsement of PGD benefits of having children without genetic mutations and eliminating genetic diseases.
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