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Integrative Review of Reproductive Decision Making of Women Who Are BRCA Positive

Published:September 11, 2020DOI:https://doi.org/10.1016/j.jogn.2020.07.006

      Abstract

      Objective

      To synthesize research findings about reproductive decision making among women who are BRCA positive.

      Data Sources

      PubMed and CINAHL.

      Study Selection

      Articles published in English between 2000 and June 28, 2020, about the reproductive decision making of women with a confirmed BRCA1 or BRCA2 mutation.

      Data Extraction

      We extracted data about participants, study design, analysis, follow-up, and results. We used the modified Downs and Black checklist and Kennelly’s qualitative data analysis to rate studies for quality and applicability by using.

      Data Synthesis

      We included five of 257 screened articles in our synthesis. The total sample size of the five studies was 1,468 women. The most prevalent factors related to reproductive decision making were the impending decisions regarding childbearing and family choices, including decisions about biological children, preventive surgery, preimplantation genetic diagnosis, and prenatal diagnosis to prevent further transmission of a BRCA mutation, and family planning.

      Conclusion

      A lack of knowledge exists about the reproductive decision-making processes of women who are BRCA positive. A better understanding of this process would provide nurses and other clinicians with the knowledge needed to support these women through their reproductive life choices.

      Keywords

      The BRCA1 and BRCA2 genes produce tumor suppressor proteins. The role of these proteins is to repair damaged DNA and ensure the stability and integrity of each cell’s genetic material (
      National Cancer Institute
      BRCA mutations: Cancer risk and genetic testing.
      ). When either of these genes is mutated, the repair work of damaged DNA does not occur. Because of the inability to repair DNA, additional genetic alterations occur that can lead to cancer. Specific inherited BRCA mutations increase the risk for breast and ovarian cancers. Women who inherit mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than those without these mutations. These gene mutations are responsible for 5% to 10% of all breast cancers and 10% to 15% of all ovarian cancers (
      • Heald B.
      • Marquard J.
      • Funchain P.
      Strategies for clinical implementation of screening for hereditary cancer syndromes.
      ). BRCA1, located on chromosome 17 and discovered in 1994, contains more than 1,800 variants that cause increased risk of cancer (
      • Nelson H.D.
      • Pappas M.
      • Cantor A.
      • Haney E.
      • Holmes R.
      Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: Updated evidence report and systematic review for the US Preventive Services Task Force.
      ). The BRCA2 gene, located on chromosome 13 and discovered in 1995, contains more than 1,300 variants (
      • Nelson H.D.
      • Pappas M.
      • Cantor A.
      • Haney E.
      • Holmes R.
      Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: Updated evidence report and systematic review for the US Preventive Services Task Force.
      ).
      BRCA mutations are inherited in an autosomal dominant pattern (
      • Julian-Reynier C.
      • Fabre R.
      • Coupier I.
      • Stoppa-Lyonnet D.
      • Lasset C.
      • Caron O.
      • Nogues C.
      BRCA1/2 carriers: Their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.
      ). Either parent who has a BRCA mutation has a 50% chance of passing the mutation to offspring. To date, hundreds of variants have been identified within the BRCA genes. Women are typically not aware that they have BRCA gene mutations until a close female relative is diagnosed with breast or ovarian cancer. Many choose to undergo genetic testing as early as age 18 years to determine their risks. However, cancer risks associated with BRCA gene mutations rarely manifest before a woman’s late 20s or early 30s. ().
      Women who have BRCA1 mutations have an 85% lifetime risk for breast cancer and a 65% lifetime risk for ovarian cancer; women who have BRCA2 mutations have an 80% lifetime risk for breast cancer and a 23% lifetime risk for ovarian cancer (
      • Kuchenbaecker K.B.
      • Hopper J.L.
      • Barnes D.R.
      • Phillips K.-A.
      • Mooij T.M.
      • Roos-Blom M.-J.
      • Antoniou A.C.
      Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
      ). Because of these risks, specific risk reduction strategies are recommended, including salpingo-oophorectomy at the age of 35 years or when childbearing is complete and a bilateral mastectomy (
      American College of Obstetricians and Gynecologists Committee on Practice Bulletins-Gynecology, American College of Obstetricians and Gynecologists Committee on Genetics, & Society of Gynecologic Oncology
      Practice bulletin no. 182: Hereditary breast and ovarian cancer syndrome.
      ;
      • Daly M.B.
      • Pilarski R.
      • Berry M.
      • Buys S.S.
      • Farmer M.
      • Friedman S.
      • Darlow S.
      NCCN guidelines insights: Genetic/familial high-risk assessment: Breast and ovarian, version 2.2017.
      ; see Table 1). Because of the current trend among women to postpone childbearing until their 30s, a growing number of women will be diagnosed with cancer before they complete their families (
      • Waimey K.E.
      • Smith B.M.
      • Confino R.
      • Jeruss J.S.
      • Pavone M.E.
      Understanding fertility in young female cancer patients.
      ). This has resulted in an increased focus on fertility and reproductive choice by women who are BRCA positive and view childbearing as a priority (
      • Flink D.M.
      • Sheeder J.
      • Kondapalli L.A.
      A review of the oncology patient’s challenges for utilizing fertility preservation services.
      ;
      • Hoskins L.M.
      • Werner-Lin A.
      • Greene M.H.
      In their own words: Treating very young BRCA1/2 mutation-positive women with care and caution.
      ). Unfortunately, many women have not yet considered how many biological children they want by the time they become aware of risk-reducing guidelines. Subsequently, when these women reach the recommended age for surgery, they have lost the window of opportunity to complete their families. Depending on their choices, they may have varying levels of regret afterward (
      • Di Prospero L.S.
      • Seminsky M.
      • Honeyford J.
      • Doan B.
      • Franssen E.
      • Meschino W.
      • Warner E.
      Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: Findings from a focus group and a needs-assessment survey.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ;
      • Stan D.L.
      • Shuster L.T.
      • Wick M.J.
      • Swanson C.L.
      • Pruthi S.
      • Bakkum-Gamez J.N.
      Challenging and complex decisions in the management of the BRCA mutation carrier.
      ;
      • Werner-Lin A.
      • Rubin L.R.
      • Doyle M.
      • Stern R.
      • Savin K.
      • Hurley K.
      • Sagi M.
      “My funky genetics”: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies.
      ).
      Table 1Recommendations for BRCA1/BRCA2 Mutation Carriers
      OrganizationRecommendation(s)
      American College of Obstetricians and Gynecologists Committee on Practice Bulletins-Gynecology, American College of Obstetricians and Gynecologists Committee on Genetics, & Society of Gynecologic Oncology
      Practice bulletin no. 182: Hereditary breast and ovarian cancer syndrome.
      Risk-reducing bilateral salpingo-oophorectomy recommended at age 35 to 40 years for BRCA1 carriers and at age 40 to 45 for BRCA2 carriers.
      American Society of Clinical Oncology (
      • Tung N.M.
      • Boughey J.C.
      • Pierce L.J.
      • Robson M.E.
      • Bedrosian I.
      • Dietz J.R.
      • Zakalik D.
      Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology guidelines.
      )
      Preventive, risk-reducing salpingo-oophorectomy should be performed at the completion of childbearing or by the age of 40 years.

      Risk-reducing salpingo-oophorectomy should be considered earlier for BRCA1 carriers (before age 40 years) than for BRCA2 carriers given the earlier onset of ovarian cancer in BRCA1 mutation carriers.
      National Comprehensive Cancer Network
      NCCN clinical practice guidelines in oncology: Genetic/familial high-risk assessment: Breast and ovarian, version 3.2019.
      Risk-reducing salpingo-oophorectomy is recommended between ages 35 and 40 years or when childbearing is completed, but it may be delayed to age 45 years for BRCA2 carriers if necessary.
      Society of Gynecologic Oncology
      Hereditary breast and ovarian cancer syndrome. Practice bulletin number 182.
      Risk-reducing bilateral salpingo-oophorectomy is recommended at age 35 to 40 years for BRCA1 carriers and at age 40 to 45 years for BRCA2 carriers with the addition of risk-reducing mastectomy.

      Family Planning Options

      Among couples in which one partner carries a BRCA mutation, multiple options for family planning are available, including natural conception, pursuit of in vitro fertilization (IVF), or the decision not to have children. Fertility preservation options, such as embryo cryopreservation, surrogacy, and adoption, can also be considered (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Derks-Smeets I.A.
      • Gietel-Habets J.J.
      • Tibben A.
      • Tjan-Heijnen V.C.
      • Meijer-Hoogeveen M.
      • Geraedts J.P.
      • van Osch L.A.
      Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: A challenge for couples with hereditary breast and ovarian cancer.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Fortuny D.
      • Balmaña J.
      • Graña B.
      • Torres A.
      • Ramón y Cajal T.
      • Darder E.
      • Brunet J.
      Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort.
      ;
      • Friedman L.C.
      • Kramer R.M.
      Reproductive issues for women with BRCA mutations.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ;
      • Insogna I.G.
      • Ginsburg E.
      Transferring embryos with indeterminate PGD results: The ethical implications.
      ;
      • Mor P.
      • Brennenstuhl S.
      • Metcalfe K.A.
      Uptake of preimplantation genetic diagnosis in female BRCA1 and BRCA2 mutation carriers.
      ;
      • Pellegrini I.
      • Prodromou N.
      • Coupier I.
      • Huiart L.
      • Moretta J.
      • Nogues C.
      • Julian-Reynier C.
      Having a child and PND/PGD access in women with a BRCA1/2 mutation? Different approach whether ill or healthy.
      ;
      • Quinn G.P.
      • Vadaparampil S.T.
      • Tollin S.
      • Miree C.A.
      • Murphy D.
      • Bower B.
      • Silva C.
      BRCA carriers’ thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: When too many choices are just as difficult as none.
      ;
      • Rubin L.R.
      • Werner-Lin A.
      • Sagi M.
      • Cholst I.
      • Stern R.
      • Lilienthal D.
      • Hurley K.
      ‘The BRCA clock is ticking!’: Negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis.
      ;
      • Woodson A.H.
      • Muse K.I.
      • Lin H.
      • Jackson M.
      • Mattair D.N.
      • Schover L.
      • Litton J.K.
      Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis.
      ). Couples who have biological children already and those who are preparing for biological children may find themselves confronted with the question of how to prevent their children from inheriting the mutation.
      Preimplantation genetic diagnosis (PGD) as part of the IVF process allows for the selection and transfer of unaffected embryos. It begins with standard IVF. After the woman receives 2 weeks of hormonal stimulation, which includes two daily injections of follicle-stimulating hormone and luteinizing hormone, retrieval and fertilization of ova occur. The fertilized ova are tested for mutation after 8 days of development. Embryos without BRCA mutations are reserved for transfer. Ethical and moral dilemmas arise when all the embryos are affected with BRCA mutations or status cannot be determined. For example, a couple may find that all of their embryos are affected. They may decide to discontinue the process if concern for their future offspring outweighs their desire for biological children (
      • Herlihy N.S.
      • Sekhon L.
      • Lee J.A.
      • Stein D.
      • Copperman A.
      • Lederman M.A.
      Caring for BRCA carriers: Strategies to promote health and preserve fertility.
      ). If the ova or sperm carry a BRCA mutation, individuals may use a donor to prevent transmission (
      • Lin W.
      • Titus S.
      • Moy F.
      • Ginsburg E.S.
      • Oktay K.
      Ovarian aging in women with BRCA germline mutations.
      ). However, for women of certain religious or ethnic backgrounds, the use of IVF with PGD may cause moral distress because it allows for the selection and transfer of unaffected embryos only.
      Embryo cryopreservation after in vitro fertilization is the most widely used and available method of fertility preservation (
      • Farland L.V.
      • Missmer S.A.
      • Rich-Edwards J.
      • Chavarro J.E.
      • Barbieri R.L.
      • Grodstein F.
      Use of fertility treatment modalities in a large United States cohort of professional women.
      ). In this method, ova are removed and combined with sperm to form embryos that are frozen. Embryos can be thawed and placed in the uterus when decision making is complete and the woman is ready for childbearing.
      Cost is likely to be a factor in decision making. Under the Affordable Care Act, insurance companies are required to pay for genetic counseling and testing when criteria are met. For eligible women, insurance companies cover the entire cost of genetic counseling and BRCA testing with no out-of-pocket costs to the individual. However, family planning options, such as PGD and IVF, are often not covered by insurance. Insurance plans may offer coverage in selected cases, but the cost of multiple cycles of IVF and PGD may exceed $15,000 per cycle. Therefore, lack of insurance coverage and inability to pay the out of pocket costs are barriers for some families (
      • Drazba K.T.
      • Kelley M.A.
      • Hershberger P.E.
      A qualitative inquiry of the financial concerns of couples opting to use preimplantation genetic diagnosis to prevent the transmission of known genetic disorders.
      ;
      • Green V.L.
      • Weiss P.M.
      Breast disorders, an issue of obstetric and gynecology clinics.
      ;
      • Insogna I.G.
      • Ginsburg E.S.
      • Partridge A.H.
      Fertility preservation in BRCA carriers: Special considerations.
      ).
      Researchers have examined decisions to undergo genetic testing and the process of decision making regarding bilateral salpingo-oophorectomy and hysterectomy in women at risk for a BRCA mutation and those already diagnosed (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Friedman L.C.
      • Kramer R.M.
      Reproductive issues for women with BRCA mutations.
      ;
      • Garcia C.
      • Lyon L.
      • Littell R.D.
      • Powell C.B.
      Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations.
      ;
      • Garcia C.
      • Wendt J.
      • Lyon L.
      • Jones J.
      • Littell R.D.
      • Armstrong M.A.
      • Powell C.B.
      Risk management options elected by women after testing positive for a BRCA mutation.
      ;
      • Hoskins L.M.
      • Werner-Lin A.
      • Greene M.H.
      In their own words: Treating very young BRCA1/2 mutation-positive women with care and caution.
      ;
      • Pal T.
      • Bonner D.
      • Cragun D.
      • Monteiro A.N.
      • Phelan C.
      • Servais L.
      • Vadaparampil S.T.
      A high frequency of BRCA mutations in young Black women with breast cancer residing in Florida.
      ;
      • Werner-Lin A.
      • Rubin L.R.
      • Doyle M.
      • Stern R.
      • Savin K.
      • Hurley K.
      • Sagi M.
      “My funky genetics”: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies.
      ). Despite extensive evidence related to the issues that women with BRCA mutations face, reproductive decision making in this population is not well studied. Therefore, the purpose of our review was to synthesize the research literature regarding reproductive decision making in women who have BRCA1 or BRCA2 mutations.
      Little is known about the reproductive decision making of women with BRCA mutations.

      Methods

      The integrative review method is an approach that allows for the combination of diverse methodologies to reach the goal of comprehensive perspectives on a chosen topic. The results capture the depth and breadth and provide information and potential direction for further research. We conducted an integrative review to synthesize data on reproductive decision making in women with a BRCA1 or BRCA2 mutation.

       Literature Selection

      To identify relevant resources, we consulted an expert health science research librarian to conduct a comprehensive search of multiple library databases, including PubMed and CINAHL. We searched for original research articles on reproductive decision making by women with BRCA1 or BRCA2 mutations published between 2000 and 2017 and available in English. Inclusion years were expanded because of increased available publications on the BRCA mutation. We conducted the original search in September 2017 and updated it in June 2020. This accounted for variant terminology and indexing variations identified during phases of search term harvesting and testing. Initial search terms used were “BRCA” (including all deviations), “hereditary breast and ovarian cancer syndrome,” “reproduction,” “fertility,” and “decision-making.” We identified additional resources through hand searches of relevant resources and examination of the reference lists of the articles returned from the initial search.
      Articles that addressed the reproductive decision-making process, included women with confirmed BRCA1 or BRCA2 mutations, and were published between January 2000 and June 28, 2020, in English were included. We excluded studies that focused on women with unknown BRCA1 or BRCA2 mutation status or who were in the process of being tested for the mutation. Because the focus of our review was reproductive decision making, we included only studies related to that topic.

       Search Outcome and Study Selection

      The search and study selection processes are depicted in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) flowchart (see Figure 1). The preliminary search yielded 257 potentially relevant records. After duplicates were removed and exclusion criteria were applied, we reviewed the titles and abstracts of 67 records, from which 62 records were excluded, leaving only five eligible full-text articles in our review.
      Figure thumbnail gr1
      Figure 1Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) flowchart on literature search process, strategies, and outcomes.
      The remaining five articles received full-text review, and the two reasons noted for exclusion were unknown BRCA mutation status and final decision-making outcome was not fertility related. Despite relatively broad inclusion criteria, only three of the five articles that received full review met the inclusion criteria. Hand searches of reference lists and forward citation searches of the three selected articles yielded two additional articles for analysis, resulting in a total of five articles for our review.

       Data Extraction and Synthesis

      We extracted and tabulated the following data for the five selected articles: authors, study design, purpose, inclusion criteria, sample, measures, and results (see Supplemental Table S1). After we reviewed all articles, the first author (E.S.) read and analyzed each and noted themes and characteristics. The second, third, and fourth authors (J.D.-J., C.D., and S.W.) reviewed all themes and discussed and agreed on the findings.

      Results

      A total of 1,468 women participated in the five included studies. The largest sample size was 1,081 participants (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ) and the smallest was 20 (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ). One study was conducted in the United Kingdom and one in the Netherlands. The remaining three studies were conducted in the United States. The average age of participants in the studies was 41.1 years (range = 24–48 years), and most participants were married (68%) and were White (91.1%).

       Measurement of Reproductive Decision Making

      How reproductive decision making was measured varied across the studies. Authors used semistructured interviews to discuss the effects of BRCA1 and BRCA2 mutations on life decisions, especially related to plans to have children (
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ) and how women with BRCA mutations but not cancer diagnoses made decisions about family planning (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ). Cross-sectional surveys were used to determine fertility consultation and fertility preservation treatment (
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ;
      • Kim J.
      • Skrzynia C.
      • Mersereau J.E.
      A pilot study of BRCA mutation carriers’ knowledge about the clinical impact of prophylactic-oophorectomy and views on fertility consultation: A single-center pilot study.
      ).
      We used a modified Downs and Black checklist (
      • Downs S.
      • Black N.
      The feasibility of creating a checklist for the assessment of the methodological quality both of randomised and non-randomised studies of health care interventions.
      ; see Figure 2) to appraise the quality of the three quantitative studies included in our review. Questionnaires were used in the three cross-sectional studies;
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      and
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      used literature searches to develop questionnaires, whereas
      • Kim J.
      • Skrzynia C.
      • Mersereau J.E.
      A pilot study of BRCA mutation carriers’ knowledge about the clinical impact of prophylactic-oophorectomy and views on fertility consultation: A single-center pilot study.
      engaged reproductive experts to develop questions to assess participants’ views of fertility preservation treatments. External validity was high because of the sample sizes in these studies (range = 151–1,081).
      Figure thumbnail gr2
      Figure 2Quality appraisal of included quantitative studies with the modified Downs and Black checklist (
      • Downs S.
      • Black N.
      The feasibility of creating a checklist for the assessment of the methodological quality both of randomised and non-randomised studies of health care interventions.
      ).
      Two of the studies were qualitative, and the researchers used semistructured interviews for data collection in both (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ,
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ). Our assessment of the two qualitative studies is shown in Figure 3 (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ) using the Guidelines to Evaluate the “Quality and Evidence” of Qualitative Studies, adapted by
      • Kennelly J.
      Methodological approach to assessing the evidence.
      . With the exception of the data analysis category, both studies ranked moderate to high in all other categories (research design, sampling, data collection, findings/results, research value, and research design). Based on the assessment of quality and evidence of the studies, we rated one study (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ) as fair and the other (
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ) as high. We identified themes related to reproductive decision making among the five included studies, including Effect on Relationships and Childbearing, Acceptability and Awareness of PGD and Prenatal Diagnosis (PND), and Choices and Attitudes Regarding Childbearing and Passing Mutation to Offspring.
      Figure thumbnail gr3
      Figure 3Quality appraisal of included qualitative studies with Kennelly’s qualitative data analysis (
      • Kennelly J.
      Methodological approach to assessing the evidence.
      ).

       Effect on Relationships and Childbearing

      Researchers evaluated the effects that a BRCA mutation had on relationships and childbearing (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ). Descriptive studies were used to assess demographic information and answer questions about the influence of BRCA status on marriage, relationships, and family planning.
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      showed that 22% of 1,081 participants reported that knowledge of their carrier status made them more anxious to get married, and 38% of participants reported that their carrier status influenced the selection of a partner. Participants sought partners who were emotionally and financially secure, understood their carrier status, and supported their decision making (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ).
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      found that for 25 women participants, their husbands did not agree about family planning, especially if they had children from a previous marriage. These men were reluctant to engage in discussions about having additional children with the risk of a BRCA transmission. For women who were in committed relationships and were older than 30 years, the priority was to have children, whereas for younger women, the priority was to find the right partner. These findings were consistent across studies (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ).

       Acceptability and Awareness of PGD and PND

      Authors of three studies explored the acceptability and awareness of PGD and PND (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ). Researchers identified whether participants were aware of the possibility of PGD or PND, their level of knowledge about these two reproductive options, and if they viewed them as an acceptable means to create their families. The authors also assessed the use of these reproductive options in the prevention of transmission of the BRCA mutation. Findings of these studies indicated that childless women who were younger, had a higher educational level, and had more immediate child desires were more aware of diagnostic options and cancer risk (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ).
      Chan and colleagues (2017) found that a personal history of cancer, already having children, older age, and type of BRCA mutation were not associated with acceptance of PGD or PND. Of the 1,081 women who would choose to use PGD or PND, 376 (34.8%) indicated they would consider undergoing PGD to reduce the risk of a BRCA mutation transmission, and 600 (55.5%) believed that PND should be offered to pregnant women who are BRCA mutation carriers (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ). Furthermore, of the 600 women who believed that PND should be offered to pregnant women, only 180 (30%) reported that they would actually use it themselves (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ). Despite these values, few women reported that they would consider pregnancy termination if the fetus carried a mutation (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ).
      Women with BRCA mutations feel a sense of urgency to complete their families for fear of losing the opportunity to do so.

       Choices and Attitudes Regarding Childbearing and Passing Mutation to Offspring

      Some women struggled with the knowledge that they could pass the mutation to their children and experienced guilt after they learned they were pregnant (
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ). These feelings of guilt were consistent with the results of
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      , who found that out of 116 women, 20 (17.2%) would not have children because they were concerned about the risk of transmission to their offspring. Despite the concern of passing mutations to offspring, many women with BRCA mutations still want to have children naturally (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ). Few researchers have examined women’s attitudes and experiences regarding PGD or PND. Of the 635 women who believe that PGD should be offered to individuals with a BRCA mutation, only 222 (35%) would consider it (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ). Among 284 women whose families were not complete at the time of BRCA test disclosure, 116 (40.8%) said that the knowledge of their BRCA status affected their decisions to have biological children (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ), and 50 (17.7%) would pursue fertility treatments. Furthermore, of the 50 women whose families were not complete at the time of BRCA test disclosure, 20 (40%) would consider IVF to freeze their eggs for future use (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ). Women who already had biological children were less likely to pursue fertility treatments in light of their BRCA status (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ). Despite the small number of women who would choose fertility treatments, the majority of mutation carriers, especially those who did not have children and were non-White, expressed positive opinions about fertility preservation treatments (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ;
      • Kim J.
      • Skrzynia C.
      • Mersereau J.E.
      A pilot study of BRCA mutation carriers’ knowledge about the clinical impact of prophylactic-oophorectomy and views on fertility consultation: A single-center pilot study.
      ).

      Discussion

      Women diagnosed with a BRCA mutation face difficult decisions about childbearing. Results of our integrative review suggest that marriage and relationship status, as well as views about the use, acceptability, and awareness of fertility options, affect women’s childbearing decision making. Women with a known BRCA mutation have a sense of urgency in prioritization of childbearing over cancer risk management (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ).
      Some researchers have noted that single women who test positive for a BRCA mutation experience urgency to find a partner (
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Hamilton R.
      • Hurley K.E.
      Conditions and consequences of a BRCA mutation in young, single women of childbearing age.
      ;
      • Werner-Lin A.
      Beating the biological clock: The compressed family life cycle of young women with BRCA gene alterations.
      ). These women desire someone who is emotionally and financially secure, understands their mutation status, and is supportive of their reproductive decision making (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ). Others found that women place greater emphasis on having children rather than finding a partner (
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ). Women with a BRCA mutation expressed urgency to bear children, if possible, before the recommended surgery that will decrease their cancer risk but render them infertile. When that was not possible, they considered extending their preventive surgery window to bear children despite their increasing cancer risk (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ). We found that women with children were more likely to undergo preventive surgery than childless women, analogous to previous research findings from a survey of women at increased risk for breast and ovarian cancer but who were not confirmed as BRCA mutation carriers (
      • Howard A.F.
      • Balneaves L.G.
      • Bottorff J.L.
      Women’s decision making about risk-reducing strategies in the context of hereditary breast and ovarian cancer: A systematic review.
      ;
      • Padamsee T.J.
      • Wills C.E.
      • Yee L.D.
      • Paskett E.D.
      Decision making for breast cancer prevention among women at elevated risk.
      ). Regardless of relationship status, a sense of urgency toward childbearing is still prevalent among women because they recognize that fertility declines with age (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Dean M.
      • Rauscher E.A.
      “It was an emotional baby”: Previvors’ family planning decision-making styles about hereditary breast and ovarian cancer risk.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ). Although this desire for children can cause strain on relationships, counseling may be helpful for couples to assess the risks to the woman’s health and the health of future children against not having a complete family (
      • Hoskins L.M.
      • Werner-Lin A.
      • Greene M.H.
      In their own words: Treating very young BRCA1/2 mutation-positive women with care and caution.
      ).
      We found that childless women who considered PGD tended to be younger, with higher educational levels and more immediate desires for children (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ). However, because PGD provides couples the opportunity to select non-BRCA–positive embryos, individuals may be conflicted about this choice because of ethical or moral dilemmas. Although few researchers have assessed women’s attitudes and experiences regarding PGD, those who have found that although the majority of women believe PGD should be offered to individuals testing positive for a BRCA mutation (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ), relatively few would consider it for themselves (
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ;
      • Gietel-Habets J.J.
      • de Die-Smulders C.E.M.
      • Derks-Smeets I.A.P.
      • Tibben A.
      • Tjan-Heijnen V.C.G.
      • van Golde R.
      • van Osch L.A.D.M.
      Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
      ).
      Governmental regulation of PGD varies among countries. For example, in France, the Netherlands, and the United Kingdom, PGD use is regulated by the government. A BRCA mutation is one of the most frequent indicators for PGD; consequently, women in those countries would have positive opinions regarding PGD. In the United States, the use of PGD is not government regulated. As a result, its use is at the discretion of fertility specialists, obstetrician/gynecologists, geneticists, and genetic counselors, who independently prioritize the needs of individuals when assisting with the decision about for whom PGD should be used (
      • Bayefsky M.
      Who should regulate preimplantation genetic diagnosis in the United States?.
      ).
      Research findings show that women are strongly motivated to do whatever they can to control the risk of genetic mutations for their future children (
      • Julian-Reynier C.
      • Fabre R.
      • Coupier I.
      • Stoppa-Lyonnet D.
      • Lasset C.
      • Caron O.
      • Nogues C.
      BRCA1/2 carriers: Their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.
      ;
      • Quinn G.P.
      • Vadaparampil S.T.
      • Tollin S.
      • Miree C.A.
      • Murphy D.
      • Bower B.
      • Silva C.
      BRCA carriers’ thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: When too many choices are just as difficult as none.
      ). For most women with BRCA mutations and their partners, the decision to use reproductive technologies is far more difficult than previous decisions, and they may find themselves paralyzed by an inability to move forward (
      • Ormondroyd E.
      • Donnelly L.
      • Moynihan C.
      • Savona C.
      • Bancroft E.
      • Evans D.G.
      • Watson M.
      Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: A qualitative analysis.
      ).
      We found that women with BRCA mutations struggle with the idea that their children may inherit the mutation and often have feelings of sadness and guilt. These findings are consistent with previous research focused on opinions that influence the decision to be tested for a BRCA mutation (
      • Hesse-Biber S.
      The genetic testing experience of BRCA-positive women: Deciding between surveillance and surgery.
      ;
      • Hesse-Biber S.
      • An C.
      Genetic testing and post-testing decision making among BRCA-positive mutation women: A psychosocial approach.
      ;
      • Kridli S.A.-O.
      • Austin H.
      Factors influencing women’s decisions to getting tested for BRCA mutation.
      ;
      • Sankar P.
      • Wolpe P.R.
      • Jones N.L.
      • Cho M.
      How do women decide? Accepting or declining BRCA1/2 testing in a nationwide clinical sample in the United States.
      ). We also found that knowledge of a BRCA mutation status influenced women’s decisions to have children. Findings of our review show that among women diagnosed with a BRCA mutation, 25% would pursue fertility treatments and 50% would freeze their eggs for future use (
      • Chan J.L.
      • Johnson L.N.C.
      • Sammel M.D.
      • DiGiovanni L.
      • Voong C.
      • Domchek S.M.
      • Gracia C.R.
      Reproductive decision-making in women with BRCA1/2 mutations.
      ;
      • Donnelly L.S.
      • Watson M.
      • Moynihan C.
      • Bancroft E.
      • Evans D.G.
      • Eeles R.
      • Ormondroyd E.
      Reproductive decision-making in young female carriers of a BRCA mutation.
      ). Many women desire to have children naturally, without the use of PGD, knowing that the risk of transmission is not eliminated.
      More than 90% of the participants in the studies reviewed were White, although findings of other studies suggest that BRCA mutations have comparable prevalence among African American (
      • Pal T.
      • Bonner D.
      • Cragun D.
      • Monteiro A.N.
      • Phelan C.
      • Servais L.
      • Vadaparampil S.T.
      A high frequency of BRCA mutations in young Black women with breast cancer residing in Florida.
      ), Asian (
      • Wong E.S.Y.
      • Shekar S.
      • Met-Domestici M.
      • Chan C.
      • Sze M.
      • Yap Y.S.
      • Lee A.S.G.
      Inherited breast cancer predisposition in Asians: Multigene panel testing outcomes from Singapore.
      ), White, and Hispanic (
      • Villarreal-Garza C.
      • Weitzel J.N.
      • Llacuachaqui M.
      • Sifuentes E.
      • Magallanes-Hoyos M.C.
      • Gallardo L.
      • Narod S.A.
      The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.
      ) populations. However, there are significant racial/ethnic factors that influence the ability to access genetic testing and BRCA risk management interventions.

       Limitations

      The limitations of this study include the exclusion of articles that were not published in English and the omission of reviewed articles in which the authors addressed participants’ desires for more children. We believe that the addition of these studies would provide key information about fertility intentions. Also, participants of diverse ethnic groups are not well represented in the studies reviewed, and this lack of sample diversity limits the generalizability of our findings.

       Implications

      The most important implication of our review is the recognition that women with BRCA mutations, particularly younger women, feel a sense of urgency to complete their families. This challenge provides the recognition that younger women need more support and provide the opportunity for nurses and advanced practitioners to offer this support. These women are in need of guidance regarding marriage and family planning, and visits and recommendations using well-established professional guidelines can be useful to address these challenges. In addition, the use of evidence-based counseling to develop tailored nursing interventions, including a detailed family history, the documentation of these results in the electronic health record, and awareness of the advance practice nursing genetic/genomic competencies would be helpful in addressing these challenges (
      • Greco K.E.
      • Tinley S.
      • Seibert D.
      Development of the essential genetic and genomic competencies for nurses with graduate degrees.
      ; see Table 2). It is evident that reproductive decision making among women with a BRCA mutation is an emotionally charged experience. However, the emotional aspects of women’s reproductive decision making in light of BRCA mutations were not included in any of the studies in our review. Acknowledgment of these emotions can guide nurses to recognize patient concerns, discuss health care issues, and provide the decision support needed for this vulnerable population.
      Further research is needed about the reproductive decisions that women who are BRCA positive make in order to develop personalized nursing interventions.
      Table 2Essential Competencies of Genetic and Genomic Nursing
      Professional Responsibilities/Competencies
      • Recognize when one’s own attitudes and values related to genetic and genomic science may affect the care provided to clients
      • Advocate for clients’ access to desired genetic/genomic services and/or resources, including support groups
      • Examine competency of practice on a regular basis, identifying areas of strength as well as areas in which professional development related to genetics and genomics would be beneficial
      • Incorporate genetic and genomic technologies and information into registered nurse practice
      • Demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language
      • Advocate for the rights of all clients for autonomous, informed genetic- and genomic-related decision making and voluntary action
      Professional Practice DomainNursing Assessment: Applying/Integrating Genetic and Genomic Knowledge
      • Demonstrate an understanding of the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness
      • Demonstrate an ability to elicit a minimum of three generations of family health history information
      • Construct a pedigree from collected family history information using standardized symbols and terminology
      • Collect personal, health, and developmental histories that consider genetic, environmental, and genomic influences and risks
      • Conduct comprehensive health and physical assessments that incorporate knowledge about genetic, environmental, and genomic influences and risk factors
      • Critically analyze the history and physical assessment findings for genetic, environmental, and genomic influences and risk factors
      • Assess clients’ knowledge, perceptions, and responses to genetic and genomic information
      • Develop a plan of care that incorporates genetic and genomic assessment information
      Identification
      • Identify clients who may benefit from specific genetic and genomic information and/or services based on assessment data
      • Identify credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies specific to given clients
      • Identify ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues related to genetic and genomic information and technologies
      • Define issues that undermine the rights of all clients for autonomous, informed genetic- and genomic-related decision making and voluntary action
      Provision of Education, Care, and Support
      • Provide clients with interpretation of selective genetic and genomic information or services
      • Provide clients with credible, accurate, appropriate, and current genetic and genomic information, resources, services, and/or technologies that facilitate decision making
      • Use health promotion/disease prevention practices that
        • consider genetic and genomic influences on personal and environmental risk factors
        • incorporate knowledge of genetic and/or genomic risk factors
        • use genetic- and genomic-based interventions and information to improve clients’ outcomes
      • Collaborate with health care providers in providing genetic and genomic health care
      • Collaborate with insurance providers/payers to facilitate reimbursement for genetic and genomic health care services
      • Perform interventions/treatments appropriate to clients’ genetic and genomic health care needs
      • Evaluate the impact and effectiveness of genetic and genomic technology, information, interventions, and treatments on clients’ outcomes
      Note. From
      American Nurses Association
      Essential competencies. In Essentials of genetic and genomic nursing: Competencies, curricula guidelines, and outcome indicators.
      , “Essential Competencies,” in Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators (2nd ed., p. 11–13). Copyright 2016 by American Nurses Association. Adapted with permission.

       Conclusion

      The paucity of research regarding women’s reproductive decision making when they have BRCA mutations presents an important opportunity for future research. As more women learn their genetic breast or ovarian cancer risks, they must grapple with difficult decisions about reproductive life planning. The recurring themes from our review included Effect on Relationships and Childbearing, Acceptability and Awareness of PGD and PND, and Choices and Attitudes Regarding Childbearing and Passing Mutation to Offspring. The emotional aspects of this decision making are not well understood and require additional study. Identification of the emotions and personal values that influence reproductive decision making will help nurses provide psychological support and compassionate, knowledgeable care. Providing women with clear guidance and information about choices concerning the multiple options available to them is paramount. The sensitivity and complexities of these issues and the likelihood that they will require discussion with nurses indicate a critical need for additional research.

      Acknowledgment

      Funded by the University of Pittsburgh’s Margaret Wilkes Scholarship . The authors thank Mary Lou Klem, Health Science Librarian at the University of Pittsburgh.

      Supplementary Material

      References

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      Biography

      Elizabeth Skrovanek, BSN, RN, is a PhD candidate at the University of Pittsburgh School of Nursing, Pittsburgh, PA.
      Jacqueline Dunbar-Jacob, PhD, RN, FAAN, is Dean of the School of Nursing and adjunct faculty in the Departments of Psychology, Epidemiology, and Occupational Therapy, University of Pittsburgh, Pittsburgh, PA.
      Colleen Dunwoody, MS, RN, is a research associate at the University of Pittsburgh School of Nursing, Pittsburgh, PA.
      Susan Wesmiller, PhD, RN, is an associate professor at the University of Pittsburgh School of Nursing, Pittsburgh, PA.