Attitudes of high-risk women toward preimplantation genetic diagnosis

Quinn, Gwendolyn P.; Vadaparampil, Susan T.; Wilson, Crystal; King, Lindsey; Choi, Jimin; Miree, Cheryl A.; Friedman, Sue

doi:10.1016/j.fertnstert.2008.03.019

Cited by 68 publications

(90 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Only 39% (5/13) of studies 11,31,34,35,37 indicated the number of participants with missing data for each variable tested.…”

Section: Methodological Qualitymentioning

confidence: 99%

“…Twenty-three percent (3/10) of studies [37][38][39] did not report limitations or bias of each study. Moreover, 54% (7/13) of studies 20,21,31,32,[34][35][36] discussed the external validity specifically in that results may be limited to heterogeneous populations. Sixty-two percent (8/13) of studies 11,20,32,35,[37][38][39]40 reported their source of funding.…”

Section: Methodological Qualitymentioning

confidence: 99%

“…[38][39][40] Total enrollment from all 13 studies was 5,294 participants, with a pooled average response rate of 75%. Twenty-three percent (3/13) of studies 20,39,40 did not report the response rate of high-risk consumers, while the response rate in the qualitative study by Quinn et al 32 was not counted because this study used a subset of participants from the study by Vadaparampil et al 20 All studies were prospective, cross-sectional with 10 using strictly quantitative methods, 11,21,31,[34][35][36][37][38][39][40] 1 qualitative methods, 32 and 2 mixed methods. 20,33 The median sample size was approximately 213 participants (range, 10-2,110).…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

“…20,33 The median sample size was approximately 213 participants (range, 10-2,110). Thirty-one percent (4/13) of studies 20,31,33,34 only recruited female participants, while the remaining studies recruited male and female participants. Twenty-three percent (3/13) of studies 35,37,38 included partners or family members.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

“…The age of the participants ranged from 16 to 75 years in all included studies. Only one study reported the median age of participants, 43,31 while 69% (9/13) 11,21,33,34,[36][37][38][39][40] reported average age, making the overall average age of high-risk participants 37.8. Three studies did not indicate either median or average age of participants.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

See 4 more Smart Citations

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Quinn

Pal

Murphy

et al. 2012

Genetics in Medicine

View full text Add to dashboard Cite

Individuals carrying deleterious germline mutations placing them at increased risk for hereditary cancer syndromes (high-risk consumers) often have a great deal of fear and concern over transmitting mutations to their offspring, particularly conditions which are autosomal dominant. Preimplantation genetic diagnosis (PGD) is a procedure that can detect certain germline cancer predisposing mutations present in embryos. The objective of this review was to assess high-risk consumers' knowledge and perceptions of PGD for hereditary cancers. A systematic literature review was conducted through PubMed, Wiley Interscience, PsychInfo, and Cochrane Library databases to identify all articles assessing consumer knowledge and attitudes of PGD for hereditary cancer syndromes. We assessed heterogeneity and the robustness of findings through additional analyses according to study location, hereditary cancer type, and sample size. Thirteen articles remained eligible after the application of specific criteria. Results show a general low level of knowledge about PGD for hereditary cancers, moderate rates of acceptability among high-risk groups, and high levels of need for information about PGD. Individuals in specific risk groups such as those with a personal or family history of hereditary breast and ovarian cancer (HBOC) syndrome or familial adenomatous polyposis (FAP) may benefit from educational information from healthcare professionals about the use of PGD. 2012:14(2):191-200 Genet Med

show abstract

“…Only 39% (5/13) of studies 11,31,34,35,37 indicated the number of participants with missing data for each variable tested.…”

Section: Methodological Qualitymentioning

confidence: 99%

Section: Methodological Qualitymentioning

confidence: 99%

Section: Characteristics Of Studiesmentioning

confidence: 99%

Section: Characteristics Of Studiesmentioning

confidence: 99%

Section: Characteristics Of Studiesmentioning

confidence: 99%

See 3 more Smart Citations

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Quinn

Pal

Murphy

et al. 2012

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations

Hurley

Rubin

Werner‐Lin

et al. 2012

Cancer

View full text Add to dashboard Cite

Background Studies show that BRCA1/2 mutation carriers are interested in learning about reproductive options such as pre-implantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally-charged risk information. Method Thirty-three reproductive age BRCA1/2 mutation carriers who had previously undergone genetic counseling viewed a tutorial about PGD and were interviewed about attitudes towards PGD, and preferences about how to include PGD information in genetic counseling. Results Most participants preferred to be briefly informed of availability of PGD information, and to receive written materials about PGD, but with the option of deferring detailed discussion if they already feel overloaded or perceive that PGD is not immediately relevant to their risk management and/or childbearing plans. For some, the stress of testing temporarily interfered with information processing, producing states of cognitive avoidance (“in a fog,” “tuning out”). Some preferred to discuss PGD with a physician with whom they had an ongoing relationship (e.g., OB/GYN, primary care provider, oncologist). Conclusions Providers offering cancer genetic testing can consider indicating availability of PGD information, while attending to patients’ level of interest and ability to absorb information. Research is needed to link patient responses to information overload to psychosocial outcomes (e.g., distress, decision quality). Continuing medical education is needed to support providers in facilitating informed decisions about PGD.

show abstract

Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options

Cahn

Rosén

Wilmot

2019

Movement Disord Clin Pract

View full text Add to dashboard Cite

Background Background: In vitro fertilization with preimplantation genetic testing is a growing reproductive option for people who want to avoid passing a single-gene condition on to their offspring. The spinocerebellar ataxias are a group of rare, autosomal-dominant neurodegenerative disorders which are strong candidates for the use of this technology. Objectives Objectives: This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia. Methods Methods: We administered an online survey to U.S. residents of reproductive age who have been clinically or genetically diagnosed with spinocerebellar ataxia. We assessed their understanding of inheritance and their reproductive opinions. ResultsResults: Of 94 participants, 70.2% answered all four inheritance questions correctly. The majority felt they could describe each reproductive option except prenatal diagnosis. Individuals were most interested in in vitro fertilization with preimplantation genetic testing: 48.4% (45 of 93) said they would consider it. They were least interested in prenatal diagnosis and donated embryos or gametes. Having spinocerebellar ataxia with anticipation and choosing inheritance risk as an important factor were both significantly associated with interest in preimplantation genetic testing. Choosing religion/morality as an important factor was associated with less interest in preimplantation genetic testing and prenatal diagnosis. Conclusions Conclusions: Our population displayed basic knowledge of inheritance risk, and the majority wanted to avoid having affected children. Consistent with literature for other autosomal-dominant adult-onset conditions, individuals showed a preference for preimplantation genetic testing. Health care providers should continue to educate patients about reproductive options and their risks and limitations.

show abstract

Attitudes of high-risk women toward preimplantation genetic diagnosis

Cited by 68 publications

References 12 publications

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations

Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options

Contact Info

Product

Resources

About