Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Brandt, Amanda; Tschirgi, Matthew L.; Ready, Kaylene; Sun, Charlotte C.; Darilek, Sandra; Hecht, Jacqueline; Arun, Banu K.; Lu, Karen H.

doi:10.1007/s10689-010-9343-8

Cited by 29 publications

(31 citation statements)

References 36 publications

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“…In the United States, approximately half of gynaecological oncologists and obstetric/gynaecologists surveyed thought PGD appropriate for BRCA; o20% reported that they were 'knowledgeable' or 'very knowledgeable' about PGD. 25 Interestingly, the proportions of surveyed health professionals who consider PGD acceptable are consistent with the proportions who view PND/TOP as acceptable for the same conditions. In the United Kingdom, data from clinical genetics units are lacking.…”

Section: Discussionsupporting

confidence: 55%

“…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: 99%

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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: Discussionsupporting

confidence: 55%

Section: Introductionmentioning

confidence: 99%

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 question of which healthcare provider(s) should be approaching patients with information about PGD is important to consider. It is notable that patients most often preferred to have these discussions with a genetic counselor or with the physician in charge of syndrome management, however not all patients may have access to a genetic counselor and previous data have suggested that physician knowledge of PGD for hereditary cancer is limited[38]. Given the high degree of ambivalence about PGD that we observed in this population, continuing education may be indicated to ensure that providers have sufficient knowledge about PGD so that patients can make informed decisions about whether to seek more specialized reproductive counseling.…”

Section: Discussionmentioning

confidence: 99%

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

et al. 2013

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Introduction Preimplantation Genetic Diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated awareness and acceptance of PGD among patients with hereditary cancer syndromes. Methods Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Results Of 370 respondents (38% return rate), 28% felt their syndrome impacted family planning, 24% were aware of PGD, 72% felt that PGD should be offered, 43% would consider using PGD, and 29% were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Conclusion Hereditary cancer patients' opinions about the acceptability of PGD are similar to those of genetics and ethical experts. Patients should be told about PGD given that most had not heard of PGD, but feel that PGD should be offered.

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“…Rb is a high-penetrance disease of early childhood, and therefore parents of an affected child with Rb may still be in the reproductive age at the time of diagnosis of an affected child and may opt for PND in a subsequent pregnancy. Furthermore, physicians caring for patients with childhood cancer often have more intense contact with the family and will have more awareness of a possible impact of childhood cancer on family planning and be more knowledgeable about reproductive options than physicians caring for adult-onset cancer patients [31]. Differences in uptake may also be explained by the lack of risk-reducing options for the hereditary cancer syndromes with childhood-onset, apart from screening to detect cancer at an early stage [32].…”

Section: Discussionmentioning

confidence: 99%

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

et al. 2016

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Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel–Lindau disease (VHL), Li–Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (<0.2%). For VHL (6.5%) and LFS (4.9%) the difference was not statistically significant. PND for Rb started 3 years after introduction of diagnostic DNA testing and remained stable over the years. For the other cancer syndromes PND started 10–15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.

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Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Cited by 29 publications

References 36 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

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

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