Cancer Genetic Testing and Assisted Reproduction

Offit, Kenneth; Kohut, Kelly; Clagett, Bartholt; Wadsworth, E.; Lafaro, Kelly J.; Cummings, Shelly; White, Michael J. V.; Sagi, Michal; Bernstein, Donna; Davis, Jessica G.

doi:10.1200/jco.2006.06.6100

Cited by 102 publications

(58 citation statements)

References 68 publications

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“…22 PGD for cancer predisposition divides opinion among health professionals in Europe 17,23 and the United States. 24,25 Attitudes among people at risk of cancer towards PGD are similarly mixed. [26][27][28] However, all of these studies have been conducted with women of all age groups -for the majority of respondents, age may preclude having (further) children, and some studies include women who do not have a BRCA mutation and so would not be able to use PGD.…”

Section: Introductionmentioning

confidence: 95%

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

et al. 2011

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The scope of conditions for which preimplantation genetic diagnosis (PGD) is licensed has recently been expanded in the United Kingdom to include genetic predisposition to adult-onset cancer. This qualitative interview study explores reproductive decision making, knowledge of and attitudes to reproductive genetic testing (prenatal diagnosis and PGD) with 25 women aged 18-45 years who received a positive BRCA test in the United Kingdom before having children. In this cohort of younger women, BRCA testing was motivated by risk management decisions; for some, BRCA status has affected their later decisions about having children. The perceived severity of hereditary breast/ovarian cancer (HBOC) influences thoughts about passing on the mutation to children and willingness to consider reproductive genetic testing, but most participants do not believe HBOC is a condition for which pregnancy termination is justified. PGD is considered more acceptable and advantageous because it would prevent transmission to future generations, but women have concerns about selecting embryos and the fact that they and affected family members would not have been selected. Women would also be deterred by the need to undergo in vitro fertilisation (IVF) and ovarian stimulation for PGD. Awareness of reproductive testing options was very variable among the cohort. The findings highlight the complexities of reproductive decision making for young women who knowingly carry a BRCA mutation, and the dilemmas inherent to reproductive genetic testing when the condition being tested for also affects a prospective parent. Counselling and psychological support for BRCA-positive women and couples concerning reproductive options are strongly indicated.

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Section: Introductionmentioning

confidence: 95%

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

et al. 2011

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“…PGD for hereditary cancer is particularly controversial and is still not widely used. [4][5][6][7] Lavery et al 8 found that PGD users (for diseases other than FAP) and who also had experience with PND reported that the experience of PND followed by termination had a negative impact and that PGD is a potentially valuable alternative. Although the first PGD procedures for FAP were already performed in 1998, 3 the availability of both PND and PGD for FAP still varies between countries.…”

Section: Introductionmentioning

confidence: 99%

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

et al. 2009

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Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA testing, PND and PGD among members of families at high risk for FAP. In this nationwide, cross-sectional study, questionnaires were sent to individuals from families at high risk for FAP assessing attitudes toward and experiences with childhood testing, PND and PGD, as well as several sociodemographic, clinical and psychosocial variables. Of the individuals from FAP families invited to participate in the study, 525 members participated (response rate¼64%). Most parents who had children who were minors (n¼93) (82%) were satisfied with the DNA testing procedure. One-third of all individuals wanted DNA testing for their children before age 12. Forty percent of FAP patients indicated that the disease influenced their desire to have children. Only 15% considered termination of pregnancy for FAP acceptable. Approximately 30% of individuals with a FAP diagnosis and their partners considered PND and PGD as acceptable for themselves. A positive attitude was associated with higher levels of guilt and a positive attitude toward termination of pregnancy. Importantly, of those with FAP at childbearing age, 84% had had no previous information at all about either PND or PGD. Future efforts should be aimed at educating FAP family members about reproductive options, allowing them to make an informed choice about family planning. Routine discussion of all reproductive options with a medical specialist should be encouraged.

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“…11,12,14 More recently, PGD has been used to detect cancer predisposition, including BRCA mutations. 6,17 The first case report of an Australian baby born after PGD for a BRCA1 mutation was published in 2008. 15 In a following report of a case series of 10 women seeking consultation about PGD for a BRCA mutations in Israel, five underwent the procedure, which resulted in three pregnancies with three live births (a set of twins and a singleton; the third pregnancy was ongoing).…”

mentioning

confidence: 99%

Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

Vadaparampil

Quinn

Knapp

et al. 2009

Genetics in Medicine

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Purpose: To assess sociodemographic, clinical, awareness, and attitudinal factors associated with acceptance of preimplantation genetic diagnosis among women concerned about hereditary breast and ovarian cancer. Methods: Participants (n ϭ 962) were members of a national advocacy organization dedicated to empowering women at high risk for developing breast or ovarian cancer. Participants completed a webbased survey assessing factors associated with preimplantation genetic diagnosis acceptance. Factors significantly associated with acceptance in the bivariate analyses were used to build a logistic regression model. Results: Among the 962 respondents, 318 (33.1%) selected the option that they would consider preimplantation genetic diagnosis, 367 (38.2%) would not consider preimplantation genetic diagnosis, and 277 (28.8%) selected "don't know." Significant predictors of preimplantation genetic diagnosis acceptance were the desire to have more children, having had a prenatal genetic test, preimplantation genetic diagnosis awareness, belief that preimplantation genetic diagnosis is acceptable for individuals at risk for hereditary breast and ovarian cancer, belief that preimplantation genetic diagnosis information should be given to individuals at risk for hereditary breast and ovarian cancer, concerns about preimplantation genetic diagnosis, perceived benefits of preimplantation genetic diagnosis, and how preimplantation genetic diagnosis is considered. Conclusion: Women at increased risk for hereditary cancer may consider preimplantation genetic diagnosis as part of their reproductive decision making. Therefore, it is important to understand existing levels of awareness and attitudes toward this technology to provide optimal counseling and support. Genet Med 2009:11(10):757-765.

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Cancer Genetic Testing and Assisted Reproduction

Cited by 102 publications

References 68 publications

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer

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