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Decisional needs of patients considering preimplantation genetic testing: a systematic review

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    a Level 4, Lowy Cancer Research Centre, UNSW Sydney, Randwick 2052, NSW Australia
    Lin Cheng
    Correspondence
    Corresponding author.
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    a Level 4, Lowy Cancer Research Centre, UNSW Sydney, Randwick 2052, NSW Australia
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    Prince of Wales Clinical School, The University of New South Wales
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    a Level 4, Lowy Cancer Research Centre, UNSW Sydney, Randwick 2052, NSW Australia
    Bettina Meiser
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    a Level 4, Lowy Cancer Research Centre, UNSW Sydney, Randwick 2052, NSW Australia
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    Prince of Wales Clinical School, The University of New South Wales
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    d Centre for Clinical Genetics, Bright Alliance Building, High Street, Randwick 2031, NSW Australia
    Edwin Kirk
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    d Centre for Clinical Genetics, Bright Alliance Building, High Street, Randwick 2031, NSW Australia
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    Sydney Children's Hospital; School of Women's and Children's Health, The University of New South Wales
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    b MotherSafe, Royal Hospital for Women, Barker St, Randwick 2052, NSW Australia
    ,
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    c IVFAustralia, Level1/33 York St, Sydney, NSW 2000, Australia
    Debra Kennedy
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    b MotherSafe, Royal Hospital for Women, Barker St, Randwick 2052, NSW Australia
    c IVFAustralia, Level1/33 York St, Sydney, NSW 2000, Australia
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    Royal Hospital for Women; IVFAustralia; School of Women's and Children's Health, The University of New South Wales
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    d Centre for Clinical Genetics, Bright Alliance Building, High Street, Randwick 2031, NSW Australia
    Kristine Barlow-Stewart
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    d Centre for Clinical Genetics, Bright Alliance Building, High Street, Randwick 2031, NSW Australia
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    Northern Clinical School, Faculty of Medicine and Health, University of Sydney
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    e Room 253 A, Wallace Worth Building, UNSW Sydney, Randwick 2052, NSW Australia
    Rajneesh Kaur
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    e Room 253 A, Wallace Worth Building, UNSW Sydney, Randwick 2052, NSW Australia
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    Faculty of Medicine and Health, The University of New South Wales
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  • Author Footnotes
    a Level 4, Lowy Cancer Research Centre, UNSW Sydney, Randwick 2052, NSW Australia
    d Centre for Clinical Genetics, Bright Alliance Building, High Street, Randwick 2031, NSW Australia
    b MotherSafe, Royal Hospital for Women, Barker St, Randwick 2052, NSW Australia
    c IVFAustralia, Level1/33 York St, Sydney, NSW 2000, Australia
    e Room 253 A, Wallace Worth Building, UNSW Sydney, Randwick 2052, NSW Australia
Published:December 20, 2021DOI:https://doi.org/10.1016/j.rbmo.2021.12.011

      ABSTRACT

      This review reports on the needs and sources of support in patients’ decision-making regarding the uptake of preimplantation genetic testing. Five databases were searched systematically to capture qualitative and quantitative studies. A total of 2,336 articles were screened by title and abstract. Twelve articles met the eligibility criteria and reported on 4,047 participants. This review shows that patients need information directly relevant to PGT treatment, and information on healthcare relating to treatment and alternative reproductive options. However, too detailed, too much information, and too much medical terminology can be a barrier to decision-making. The published literature suggests that health professionals provide general information on PGT and discuss it in detail only when patients require more information about it. Additionally, studies showed that patients received decisional support through mass media, significant persons in their lives and health professionals, while referring obstetricians and gynaecologists provided relatively less help compared to other health professionals. This review highlights the importance of developing decision aids that meet patients’ decisional needs as indicated in previous studies and that utilise innovative formats to deliver information. Additionally, given rapid technical developments, there is a dearth of continuing professional education on PGT for clinicians to keep them updated.

      Key Words

      INTRODUCTION
      Preimplantation genetic testing (PGT) is a technique used to test embryos created through in-vitro fertilization (IVF) to identify those with either a chromosome abnormality or a specific known single gene predicted to have the disorder (Zegers-Hochschild et al., 2017). The terminology “preimplantation genetic testing (PGT)” and references to its rationale was coined at the international consensus consultation meeting in 2017 to ໿improve standardisation of the glossary on fertility treatment (Zegers-Hochschild et al., 2017). It includes PGT for monogenic/single gene disorders (PGT-M), PGT for chromosomal structural rearrangements (PGT-SR) and PGT for ໿aneuploidies (PGT-A). The current term PGT incorporates the former terms “preimplantation genetic diagnosis (PGD) for single gene disorders”, “PGD for chromosome rearrangements” and “preimplantation genetic screening (PGS)”; therefore, these have now been replaced with PGT-M, PGT-SR and PGT-A respectively.
      PGT-M is used to determine whether or not an embryo is predicted to be affected by a particular genetic condition such as Huntington disease or cystic fibrosis. The first application of PGT-M was described in 1990 by Handyside et al. (Handyside et al., 1990). Following the IVF procedure, embryos were analysed to determine their sex, and two female embryos were transferred to avoid the birth of a child with X-linked intellectual disability (Handyside et al., 1990). In 1998, Munne et al. reported the testing of polar bodies of oocytes from women who were known balanced translocation carriers, thus allowing PGT-SR to be performed (Munné et al., 1998). PGT-SR assesses whether embryos have chromosomal imbalances due to structural rearrangements including translocations, inversions, insertions, deletions and duplications (Coonen et al., 2020). Chromosomal rearrangements can cause infertility, pregnancy loss(es) or birth of a child with congenital malformations and developmental delay such as trisomy 13 if a parent is a 13;14 Robertsonian translocation carrier. Subsequently, the identification of embryos with numerical chromosome abnormalities, as well as smaller copy number variants (CNV) has also become possible using PGT-A (Fesahat et al., 2020). PGT-A screens all the chromosomes to assess whether there are missing or extra chromosomes or smaller segmental or sub-chromosomal deletions or duplications (Fesahat et al., 2020). Aneuploid cells are defined as cells having an abnormal number of chromosomes, and aneuploidy is associated with pregnancy loss and a range of phenotypes in affected children (Forman et al., 2013). In contrast, euploid embryos that have the correct number of chromosomes are more likely to establish a successful pregnancy and result in a healthy baby (Forman et al., 2013).
      The last three decades have witnessed the development and expansion of PGT around the world. With wide application of PGT, there is an increasing research interest in improving patient care for those using PGT, including patients’ decision-making. However, making a decision regarding whether or not to undergo PGT is complex, since it involves various factors such as success rates, procedural safety, financial costs, burden of disease, past obstetric history, religious beliefs and ethical values (Gebhart et al., 2016; Hershberger and Pierce, 2010; Klitzman, 2018; van Rij et al., 2011).
      It is commonly acknowledged that PGT is physically and emotionally demanding (Symoens et al., 2019). During the process, patients may spend considerable amounts of money and also need to commit time and emotional energy to navigate an often stressful period in their lives (Genoff Garzon et al., 2018). In addition, patients often report concerns about the application of PGT including safety and diagnostic accuracy (Olesen et al., 2017). Other concerns include the low success rate, damage to embryos during the PGT procedure, risk of multiple pregnancies, and the cost and fear of the possibility that no embryos will be available for transfer following PGT (Alsulaiman and Hewison, 2006; Lavery et al., 2002; Quinn et al., 2018; Wah Hui et al., 2002).
      In addition to these concerns, there are uncertainties relating to mosaic embryos, which can be identified by PGT-A. Embryonic mosaicism is where both euploid and aneuploid cells are identified using PGT (Brezina et al., 2016). It has been shown that the success of PGT-A can be impacted by the rates of embryonic mosaicism and the likelihood of the fetus not being mosaic if a mosaic embryo is implanted using PGT-A (Summers and Foland, 2009). Nowadays, the developmental potential of mosaic embryos is still not fully understood (Spinella et al., 2018). This means that the most likely scenario is that a mosaic embryo will either develop into a healthy baby or will not result in an ongoing pregnancy. The uncertainty of the outcome from implanting mosaic embryos makes the decision-making more complex if patients only have a mosaic embryo to transfer.
      While some patients opt not to undergo PGT, other patients make the decision to use PGT because they are motivated by the prospects of a healthy baby as a result of PGT-M and PGT-SR (Genoff Garzon et al., 2018). Patients decide to use PGT-M or PGT-SR because only embryos without a pathogenic variant are transferred into the uterus, thereby minimizing the likelihood of termination of an affected pregnancy (Farra et al., 2008; Lavery et al., 2002; Wah Hui et al., 2002). Regarding PGT-A, the primary reason for choosing PGT-A is to have a healthy baby and to decrease the risk of miscarriage (Quinn et al., 2018).
      Couples deciding whether to undertake PGT must weigh up the pros and cons outlined above. Given the complexity of decision-making regarding PGT, it is important to understand what key information patients need to consider in order to make informed decisions about PGT. Therefore, an assessment of the decisional needs of patients considering PGT is essential in improving health care for this patient group.
      This systematic review thus aims to synthesise the available evidence documenting patients’ decisional needs, including the sources of decisional support patients receive when considering PGT. Results of the review arising from current evidence may assist in guiding health professionals to provide patients with optimal health care and facilitate shared decision-making.
      MATERIALS AND METHODS
      Literature search strategy
      The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) were used to guide the review process. A total of five databases were searched: Medline, EMBASE, PsycInfo, CINAHL, Medline Epub ahead of print and in-process & other non-indexed citations. Searches were limited to studies published in English from 1990 onward, since the first human PGT was performed in 1990 (Handyside et al., 1990). Search terms relating to relevant topics were used, including PGT (e.g., “PGT-A,” “PGT-M”), decisional needs (e.g., “information needs”) and sources of decisional support (e.g., “information source”) and combined. The search terms and databases were discussed by two reviewers (L.C. and B.M.), and a third reviewer (R.K.) double-checked the accuracy of the search terms. Supplementary Table S1 outlines the search terms used in this review.
      Inclusion criteria
      Both qualitative and quantitative studies were included in the search. Searches were imported into Mendeley for initial screening.
      Articles were eligible if they:
      Assessed patients’ information or decision-making needs or sources of decisional support in decision-making regarding PGT-A, PGT-M or PGT-SR; AND
      Included a sample of patients and/or their partners who have undergone/are considering PGT-A, PGT-M and PGT-SR; AND
      Were primary research published in English from 1990 onwards.
      Data extraction and analysis
      Data extraction forms were used to summarise characteristics of included studies, participant characteristics, main findings of included studies, as well as findings relevant to the topic of our systematic review (Table 1 and Table 2). One reviewer (L.C.) completed the data extraction, and a second reviewer (R.K.) independently checked each study to ensure that all the findings relevant to this review were recorded.
      Table 1Characteristics of included studies on preimplantation genetic testing for monogenic/single gene disorders and preimplantation genetic testing for chromosomal structural rearrangements
      No.Authors (year)CountryNParticipant CharacteristicsMethodsAimsMain FindingsFindings Relevant to This Review
      1U. Meister et al.

      (2004)
      Germany2110Individuals in Germany aged 18 -50 years. The sample was weighted regarding sex and age to fit the characteristics of the German population.Cross-sectional study using surveysTo assess the attitude of German general population towards PGD; To assess the influence of knowledge, information and sociodemographic aspects on attitudes towards PGD.- Participants had little knowledge about PGD.

      - There is a general acceptance of PGD for medical indications, but not for non-medical indications.

      - Participants who already knew PGD were more likely to use PGD than those not.
      - Current sources of decisional support:
      • Television
      • Weekly journals
      • Internet
      • Radio
      - Preferred decisional sources:
      • Experts in PGD area
      • Television
      • Journals
      2R. Klitzman

      (2018)
      USA3717 physicians, 10 other health providers (mental health providers, nurses and patient organisation advocate), 10 patients who underwent PGD or considered PGD.Qualitative study using in-depth semi-structured interviewsTo assess providers’ and patients’ views, experiences and decisions towards which diseases should PGD be performed.- Participants’ views, experiences and decisions varied regarding which conditions should PGD be performed.

      - Several factors contributing to the varied responses were identified.

      - Characteristics of providers and patients could affect the decision towards the use of PGD.
      - Decisional needs:
      • Patients had a favour of PGD but not understood it (education need on PGD).
      • Patients expressed need for careful education about in what conditions PGD is suitable for.
      3S.T. Vadaparampil et al.

      (2009)
      USA962Women who were at high risk of developing hereditary breast and ovarian cancer.Cross-sectional study using surveysTo assess sociodemographic, clinical, awareness, and attitudinal factors associated with acceptance of PGD among women concerned about hereditary breast and ovarian cancer.- Women with concern about hereditary breast and ovarian cancer had different acceptance of PGD (33.1% would use PGD, 38.2% would not consider PGD and 28.8% were not sure).

      - Factors such as the desire to have more children associated with PGD acceptance were identified.
      - Decisional needs:
      • Women at high risk of developing hereditary breast and ovarian cancer thought they should be provided with information on PGD.
      • Some of them concerned about the cost of PGD, “too much like playing God”, the likelihood of using PGD for wrong purpose, chances of having a baby free of genetic mutations, and health and safety issues.
      4K. Haude et al.

      (2017)
      USA9Patients who underwent PGD for Fanconi Anaemia and/or human leukocyte antigen typing or were a member of Fanconi Anaemia Research Fund.Qualitative study using semi-structured interviewsTo examine participants’ expectations and the influence of media, bioethics and religion on their decision to undergo PGD; To examine participants’ social support and emotional experiences during their PGD process; To characterise long-term effects of PGD on relationship dynamics, others’ attitudes and parental regret.

      - The influence of media, bioethics and religion on participants’ decision of using PGD was different.

      - At different stages of PGD process, participants’ needs of support varied.

      - Other people's attitudes towards patients were similar before and after PGD.

      - Participants’ parental regret regarding PGD was negligible.
      - Current sources of decisional support:
      • Media
      • Partner
      • Individuals in similar situations
      • Friends
      • Medical professionals
      5K. Hurley et al.

      (2012)
      USA33BRCA1/2 mutation carriers (both females and males) at reproductive age who had genetic counselling and testingQualitative study using interviewsTo examine BRCA 1/2 mutation carriers’ attitudes towards PGD and preferences about how to include PGD information in genetic counselling.- Most of carriers preferred to know the availability of PGD, and written materials were preferred.

      - Carriers would choose to defer detailed PGD discussion because of overloaded information. Other reason was that PGD was not immediately relevant to risk management and/or childbearing plans.

      - Carriers preferred to discuss PGD with a physician with whom they had an ongoing relationship.
      - Decisional needs:
      • Most of participants did not favour a detailed information on PGD during genetic counselling.
      • Instead, participants preferred to know PGD as an option with general information.
      • Participants preferred written down information such as pamphlet.
      • Preferred information providers: genetic counsellors, treating physician, treating obstetrician, primary care provider.
      • Timing of receiving information on PGD (inconsistent results): some preferred to know PGD after obtaining genetic testing results, while some preferred the time of initial pre-test visit.
      6D. Fortuny et al.

      (2009)
      Spain77Individuals at high risk of carrying BRCA 1/2 mutations and health care professionals in hereditary cancer areaCross-sectional study using surveysTo investigate the potential implications of BRCA 1/2 on reproductive decision-making in individuals at risk, and their opinions about the ethics of using assisted reproductive technology for BRCA 1/2 mutation carriers.- Majority (55%) of participants would consider prenatal diagnosis in case of a mutation; 48% of participants would consider PGD; 36% of participants would decide to have children regardless of testing results; 30% would consider adoption if they had a mutation; 12% would decide not to have children in case of a mutation.

      - Most participants thought it was ethical providing prenatal diagnosis (74%) and PGD (61%) to patients with BRCA 1/2 mutation.

      - Individuals with cancer were more likely to consider PGD than individuals without cancer.
      - Decisional needs:
      • Health professionals in hereditary cancer area thought it was worthwhile to provide patients with adequate information about different options on preventing transmitting a mutation to offspring, including information about PGD.
      7J.C. Karatas et al.

      (2010)
      Australia50Women who were pursuing PGD treatmentCross-sectional study using surveysTo assess anxiety, depression, information needs and pregnancy expectation of women entering PGD.- Anxiety and depression level were similar to normal population data.

      - Anxiety was associated with financial worry and living in an inner metropolitan area.

      - Unmet information needs were information about coping strategies and what to do if unsuccessful with PGD, and unmet information needs were positively associated with women's education level.

      - expectancy of establishing a pregnancy was above that of what clinicians provide as realistic PGD pregnancy chances, and it was associated with financial worry.
      - Decisional need:
      • Coping strategies
      • What to do when PGD treatment is unsuccessful
      8K. Reumkens et al.

      (2018)
      Netherlands22Couples with one partner at risk of a hereditary cancerQualitative study using semi-structured interviewsTo explore preferences and needs of stakeholders (clinical geneticist and couples at risk of hereditary cancer) towards a patient decision aid for reproductive decision-making.- Both stakeholder groups preferred simple non-medical language, extensive explanation of the procedures and techniques used in prenatal diagnosis and PGD.

      - Health care providers were thought as the best roles to refer patients to the decision aid.

      - Both stakeholder groups showed a preference for incorporating narrative stories in the decision aid.
      - Decisional needs:
      • Explanation of the procedures and techniques involved in the PGD, including procedures for IVF and pregnancy termination
      • Duration of treatment
      • Physical consequences
      • Expected psychological burden of PGD trajectory
      • Information about success rate such as the chance of pregnancy with PGD
      • Clear information on the time and effort required to prepare for PGD such as visitations and various health care providers
      • Lay language and comprehensive information
      • Images and videos can help
      • Narrative stories
      • Form of evaluation such as an overview of couples’ preference and values
      • Discussion forum could be helpful
      • Other reproductive options
      9P.E Hershberger et al.

      (2012)
      USA44Couples who were at risk of a genetic condition and were considering or had underwent PGDQualitative study using semi-structured interviewsTo explore the decision-making process of genetically at-risk couples who were considering PGD use or who had made a decision regarding the PGD use.- Couples move through four phases named Identify, Contemplate, Resolve and Engage.

      - In the first phase (Identify), couples realise and understand their at-risk status.

      - In the Contemplate phase, couples explored parenthood and reproductive options.

      - In the Resolve phase, couples made a decision among accepting PGD, declining PGD and oscillating.

      - In the Engage phase, couples actualising their decisions.
      - Current sources of decisional support:
      • clinicians such as genetic counsellors, nurses, physicians and psychologists
      • Internet
      • Families with similar experience
      • Family members
      • Friends
      - Decisional need:
      • Some participants said the problem was not lack of information. Instead, there was too much information and they did not know what to do.
      Table 2Characteristics of included studies on preimplantation genetic testing for aneuploidies
      No.Authors (year)CountryNParticipant CharacteristicsMethodsAimsMain FindingsFindings Relevant to This Review
      1M.M. Quinn et al.

      (2018)
      USA191Patients who had consultation about PGT-A.Cross-sectional study using surveysTo examine patients’ decision-making regarding the use of PGT-A.- Reasons for undergoing PGT-A were to have a healthy baby, to reduce the incidence of birth defects, and to decrease the risk of miscarriage.

      - Reasons for not using PGT-A were to avoid the scenario where no embryos available for transfer, and to reduce cost.

      - Physicians were the single most important source of information in patients’ decision-making surrounding the use of PGT-A.

      - Current source of decisional support:
      • After consultation, patients who planned PGT-A and those decided not using PGT-A rated physicians as the single most important source of information in the decision-making.
      2K.N. Goldman et al.

      (2019)
      USA395Patients who underwent the first cycle of PGT-A.Cross-sectional study using surveysTo assess initial motivations for pursuing PGT-A; To assess decision regret and anxiety among patients following PGT-A; To assess decision regret and anxiety following euploid embryo transfer.- The primary reasons for using PGT-A were to maximise the efficiency of IVF and to reduce the per-transfer miscarriage risk.

      - Overall decisional regret of using PGT-A was low, and it was negatively associated with number of euploid embryos and number of living children.

      - Overall anxiety level was low, and it was negatively associated with age, time since oocyte retrieval and number of living children.

      - Current sources of decisional support:
      • Physicians (fertility consultation)
      • Friends
      • Internet
      • News
      • Other which was not explicitly written in the article
      3M.B. Gebhart et al.

      (2016)
      USA117Patients and their partners who underwent IVF therapyCross-sectional study using surveysTo identify the patient-perceived determinants contributing to the decision-making process for the utilisation of PGS.- Majority of participants (69%) had no previous knowledge about PGS before IVF treatment cycle. But most of them (93%) had sufficient knowledge at the time of decision-making.

      - Factors contributing to the decision-making were: additional cost of screening, the provider information and influence, and social support or acceptance from partner, family and/or friends.
      - Current sources of decisional support:
      • Clinic providers
      • Friends
      • Family
      • Internet
      - Sources of decisional support providing less information:
      • Referring obstetrician
      • Referring gynecologist
      - Decisional needs:
      • Disposition of abnormal embryos affected the decision to use PGS.
      • Cost of PGS.
      • Explanation about PGS from providers.
      Data were categorised into three tables depending on whether the included study investigated decisional needs (Table 1 and Table 2) or sources of decisional support (Supplementary Table S2). In these three tables, all decisional needs and sources of decisional support were categorised as enablers and barriers. Findings were subsequently synthesised into several themes illustrating enablers that contribute to decision-making as well as barriers to successful decision-making regarding the uptake of PGT.
      Critical appraisal
      Included studies were critically assessed by using the Standard Quality Assessment Criteria (Kmet et al., 2004), which includes checklists for both quantitative studies and qualitative studies. For each quantitative study, there were 14 criteria assessing its quality. According to the Standard Quality Assessment Criteria manual, when assessing whether a study met a specific criterion, if the study fully met a specific criterion, it would score 2. If the study partially met or did not meet a criterion, it would score 1 or 0 respectively. Criteria not applicable were marked as “N/A”. The scoring process for qualitative studies was the same, except that there were 10 criteria. A summary score was calculated according to the instructions included in the Standard Quality Assessment Criteria manual. Two reviewers (L.C. and R.K.) independently appraised each included study.
      RESULTS
      Articles published before 2017 used the term “preimplantation genetic diagnosis” or the abbreviation “PGD”, which included both “PGT-M” and “PGT-SR” in current terminology. Most of these articles did not specify whether participants were individuals utilising PGT for a single gene disorder or a structural rearrangement. Therefore, it was difficult to identify whether study results were specifically for PGT-M or PGT-SR. For this reason, when presenting synthesised results in this systematic review, results arising from PGT-M and PGT-SR setting were grouped together since they are both provided to patients with genetic conditions. By contrast, results relating to the PGT-A setting are presented separately, since PGT-A is offered to patients with fertility issues.
      The initial searches identified 2,710 records. After removing 374 duplicates, 2,336 records were screened by title and abstract. The screening yielded 10 records, which met the inclusion criteria. In addition, the reference lists of these 10 studies were screened to supplement the database search, and two additional studies were identified. Full texts of these 12 studies were retrieved for quality assessment. Figure 1 shows the study selection process using PRISMA.
      Figure 1
      Figure 1PRISMA Flow Diagram. Databases searched and the records in each step.
      The review included 12 empirical studies addressing patients’ decision-making when considering PGT. Of the included studies, 7 studies are quantitative and 5 qualitative. Eight studies were conducted in the United States. Other studies were conducted in Australia, Germany, Netherlands and Spain. Half of included studies (n = 6) described decisional needs in the PGT area, while four assessed sources of decisional support received. The other two studies described both decisional needs and sources of decisional support received. Table 3 shows the demographics of included studies.
      Table 3Demographics of included studies
      CategoryNumber of study (n)Percentage of study (%)
      Study type

       Quantitative study

       Qualitative study


      7

      5


      58.3%

      41.7%
      Study origin

       United States

       Australia

       Germany

       Netherlands

       Spain


      8

      1

      1

      1

      1


      66.7%

      8.3%

      8.3%

      8.3%

      8.3%
      Topics relevant to this review

       Decisional needs

       Sources of decisional support

       Both


      6

      4

      2


      50.0%

      33.3%

      16.7%
      Study topics

       PGT-M/PGT-SR setting

       PGT-A setting


      9

      3


      75%

      25%
      Critical appraisal
      According to calculated summary scores, the scores of quantitative studies ranged from .68 to 1.0 (reviewer 1 and reviewer 2), and scores of quantitative studies ranged from .85 to .95 (reviewer 1) and .85 to 1.0 (reviewer 2). The manual of Standard Quality Assessment Criteria provides two inclusion thresholds, which are .55 and .75. A liberal cut-off point of .55 was used, and no study was excluded. There were only minor disagreements between the two reviewers. Any disagreements were discussed by the two reviewers to reach a consensus.
      Decisional needs
      The first aim of this systematic review was to identify decisional needs when patients considered PGT. According to all included studies, patients received various support during their decision-making regarding the uptake of PGT. Some aspects of the support offered contributed to patients’ decision-making so that they could efficiently decide about whether or not to use PGT. However, other aspects of the support offered could be a barrier to effective decision-making. The support offered was synthesised into different themes followed by further synthesis to guide clinical practice, as explained below. Table 4 shows a summary of decisional needs. Figure 2, Figure 3 show the synthesis of enablers.
      Table 4A summary of decisional needs
      Enablers to decision-makingNumber of study (n)Barriers to decision-makingNumber of study (n)
      Decisional needsInformation needs
      • Coping strategies
      • Indications for PGT
      • Cost
      • Information about success rate such as the chance of pregnancy
      • Chances of having a baby free of genetic mutations
      • Health and safety issues relating to the treatment
      • Disposition of abnormal embryos
      • Information about different reproductive options
      • Explanation of the procedures and techniques involved in the treatment including IVF
      • Duration/time investment of treatment
      • Physical consequences
      • Expected psychological burden
      Other
      • Written down information such as pamphlet
      • Preferred information providers: genetic counsellors, treating physician, treating obstetrician, primary care provider
      • Timing of receiving information on PGT (individual differences): after obtaining genetic testing results vs. the time of initial pre-test visit
      • Lay language and comprehensive information
      • Images and videos can help
      • Narrative stories
      • Values clarification exercises in decision aid (e.g. an overview of couples’ preference and values)


      1

      1

      2

      1

      1

      1

      1

      2

      1

      1

      1

      1

      1

      1

      1

      1

      1

      1

      1
      Too detailed information about PGT

      Use of medical words

      Incorrect information in discussion forum

      Too much information about PGT provided


      1

      1

      1

      1
      Figure 2
      Figure 2Synthesis of enablers to decision-making in preimplantation genetic testing for monogenic/single gene disorders and preimplantation genetic testing for chromosomal structural rearrangements settings. The left column shows decisional needs arising from included studies. The middle column shows the synthesised themes of decisional needs. The right column shows four themes of sources of decisional support.
      Figure 3
      Figure 3Synthesis of enablers to decision-making in preimplantation genetic testing for aneuploidies setting. The left column shows decisional needs arising from included studies. The middle column shows the synthesised themes of decisional needs. The right column shows four themes of sources of decisional support.
      Enablers of decision-making: PGT-M and PGT-SR setting
      Information directly relevant to PGT treatment
      When patients consider PGT, their predominant needs are for information about PGT. This has been reported in six studies and is illustrated in Figure 2. In particular, one study reported that patients did not understand what PGT was, even though they were in favour of the idea of PGT (Klitzman, 2018). Therefore, they preferred to have more education about this technique, especially education on what conditions were suitable for performing PGT (Klitzman, 2018). One study reported that the success rate such as the likelihood of getting pregnant and risks had a significant influence on reproductive decision-making of couples at risk for hereditary cancer (Reumkens et al., 2018). This study also found that patients wanted an explanation of the procedures and techniques involved in the PGT treatment, including techniques involved in the IVF process (Reumkens et al., 2018). One of the included studies found that patients’ concerns about the chances of having a baby carrying pathogenic genetic variants influenced their decision about whether or not to use PGT (S.T. et al., 2009). In addition to the information above, one study showed that patients would like to receive clear information about the time and effort required for PGT treatment such as treatment duration and how many visits would be required (Reumkens et al., 2018).
      Information on health care relating to treatment
      Several studies reported patients’ needs for information on health care relating to PGT treatment. One study investigated unmet information needs of patients undergoing PGT and found that information on coping strategies was the area with the highest level of unmet needs (J.C. et al., 2010). In particular, patients wanted to know what to do if PGT treatment failed to establish a pregnancy (J.C. et al., 2010). One study assessed acceptance of PGT among women at risk of developing hereditary breast and ovarian cancer (S.T. et al., 2009). It reported that concerns about health and safety issues relating to the treatment were dominant when individuals considered the uptake of PGT, and many individuals were not sure whether they would use PGT because they were uncertain about health and safety issues (S.T. et al., 2009). In addition, needs for information on the physical consequences and expected psychological burden of the PGT trajectory were reported in another study (Reumkens et al., 2018).
      Other information
      Information about the cost of PGT is another domain for which patients have a high demand. Two studies reported that patients perceived cost as one important determinant in their decision-making (Gebhart et al., 2016; Vadaparampil et al., 2009). Therefore, providing information about cost relevant to PGT may help patients make a decision. Additionally, one study assessed health professionals’ opinions on offering PGT and prenatal diagnosis to patients at risk of a hereditary cancer. The study found that providing adequate information about different reproductive options including PGT would be helpful for patients’ reproductive decision-making (Fortuny et al., 2008). Similar results were reported in another study investigating decisional needs of couples at risk for hereditary cancer (Reumkens et al., 2018). According to this study, couples were in favour of PGT as a reproductive option and would like to know about other reproductive options in addition to PGT (Reumkens et al., 2018).
      The ways of delivering information
      The included studies reported that patients had additional needs aside from information needs. One study indicated that patients preferred to receive written information such as pamphlets to enable them to look up words in case there were unfamiliar medical terms (Hurley et al., 2012). In one study patients reported that they would like to receive information about PGT from genetic counsellors, their treating physician, treating obstetrician or primary care provider (Hurley et al., 2012). In addition, this study reported patients’ preferred timing of receiving information on PGT (Hurley et al., 2012). Results demonstrated individual differences in the preferred timing of receiving information, in that some patients preferred to receive information on PGT at the time of their initial pre-test visit, while others wanted information on PGT after obtaining genetic testing results. Also, some patients thought that the best timing to discuss PGT would be when the patient was actively trying to conceive (Hurley et al., 2012). Another study found that there was a need for lay language and that PGT needed to be explained comprehensively (Reumkens et al., 2018). This study also reported that patients valued images and videos to explain PGT, and sought narrative stories of people who were in similar situations as being helpful for decision-making (Reumkens et al., 2018). Also, a need for values clarification exercises was reported by this study. Values clarification exercises are exercises that help patients to clarify their values when making a decision (O'connor et al., 2005). Usually, a decision aid includes a form or worksheet where people can do the values clarification exercises by writing down their beliefs and preferences. One study reported that patients preferred values clarification exercises to have an overview of their preferences and values after receiving information about PGT (Reumkens et al., 2018).
      Enablers of decision-making: PGT-A setting
      Regarding decisional needs, only one study was identified specifically in the PGT-A setting (Gebhart et al., 2016). It was reported that patients were concerned about the disposal of abnormal embryos, and such concerns were seen as a significant determinant during decision-making (Gebhart et al., 2016). Therefore, providing information about the disposal of abnormal embryos would be helpful for decision-making. Also, according to Gebhart et al., patients need an explanation about PGT-A from their health care providers to help them make decisions. In addition, Gebhart et al. found that patients needed information about the cost of the PGT-A process. Figure 3 shows the enablers.
      Further synthesis for clinical practice
      In order to provide practical guidelines to assist patients in decision-making, enablers mentioned above were further synthesised into three phases of decision-making. So that health care providers may offer specific information based on patients’ different decision-making phases to satisfy their particular needs in each stage. Figure 4 shows the specific enablers in each decision-making phase.
      Figure 4
      Figure 4Decisional needs in three phases prior to the final Engage phase. The figure shows three phases in decision-making named Identify, Contemplate and Resolve, as well as relevant decisional needs in each phase. Same decisional needs in different phases are shown in overlapped areas.
      The three phases shown in Figure 4 are derived from Hershberger et al.’s framework (Hershberger et al., 2012). They found that patients moved through four phases when they considered using PGT, and that the decision-making was a dynamic and complex process. The first phase patients move through is referred to as Identify, during which patients gained information actively and acknowledged the impact of their at-risk status on their reproductive future. This systematic review collated patients’ information needs during the Identity phase. Specifically, information needs relevant to PGT treatment, such as indications for PGT and the success rates of PGT, and information on healthcare relating to PGT treatment, such as physical consequences, were collated in relation to patients, who are in the first decision-making phase (see in Figure 4).
      The second phase in patients’ decision-making process is named Contemplate, during which patients think about their expectation in relation to family size and consider various potential reproductive options (Hershberger et al., 2012). This review integrated relevant decisional information needs during the Contemplate phase, such as information about different reproductive options.
      During the third phase, Resolve, an intended decision is reached (Hershberger et al., 2012). Patients either accept using PGT, decline using PGT or oscillate between accepting and declining. For patients who have already made a decision – either accepting or declining – further decisional information is no longer necessary. However, patients who are oscillating tend to re-consider PGT in the future. Therefore, their information needs during the Resolve phase overlap with needs during the Identify and Contemplate phases. Figure 4 shows the overlapping information needs and specific information needs in each phase.
      The fourth phase, Engage, is characterised by actualizing decisions, which occurs after patients have already made a decision about using PGT. Thus, this review did not collate patients’ information needs during the Engage phase.
      Barriers to decision-making
      Volume, complexity and detail of provided information
      Besides the decisional needs mentioned above, this systematic review identified several barriers to decision-making when patients consider PGT (Figure 5). However, these identified studies were conducted among patients with genetic conditions. Therefore, barriers to decision-making in the PGT-A setting were not covered in these studies. One study interviewed carriers of BRCA 1/2 pathogenic variants and found that carriers were not in favour of information about PGT that was too detailed, as detailed information could lead to information overload (Hurley et al., 2012). Instead, carriers expressed interest in a general introduction to PGT as an option, which could be discussed further if needed (Hurley et al., 2012). Similarly, one study reported that patients avoided large amounts of information on PGT during decision-making, and that they did not know what to do if they received large volumes of information on PGT (Hershberger et al., 2012). Another barrier identified was that sometimes incorrect information was provided in online discussion forums (Reumkens et al., 2018), with both patients and clinical geneticists expressing concerns about the validity of the information delivered in these forums (Reumkens et al., 2018).
      Figure 5
      Figure 5Synthesis of barriers to decision-making. The left column shows decisional needs arising from included studies. The middle column shows the synthesised themes of decisional needs. The right column shows four themes of sources of decisional support.
      As mentioned previously, patients prefer to receive information on PGT in lay language, and medical terminology is perceived as a barrier by patients. One study reported that the majority of patients emphasised the importance of simple non-medical language (Reumkens et al., 2018). In particular, the perception was that medical terminology was difficult to share with family members, who were generally unfamiliar with PGT (Reumkens et al., 2018).
      Decisional support
      The second aim of this systematic review was to identify the sources from which patients received support. Included studies showed various sources that delivered helpful information to patients and promoted the decision-making process. However, there were also other sources of decisional support that delivered relatively inadequate information. The different sources of decisional support were synthesised into four themes as described below. The synthesis of themes is illustrated in Figures 2 and 3.
      Sources of decisional support that contribute to decision-making
      Mass media
      The mass media was identified by five studies as the main source of decisional support (Gebhart et al., 2016; Hershberger et al., 2012; K.N. et al., 2019; Meister et al., 2005; Reumkens et al., 2018). Specifically, studies found that patients acquired knowledge and news about PGT via television, the Internet, print mass media and radio (K.N. et al., 2019; Meister et al., 2005). Among these sources of decisional support, the Internet was the most frequently mentioned source, and one study in particular reported discussion forums on the Internet as a source of support favoured by patients (Reumkens et al., 2018).
      Significant persons in life
      Significant persons in life are another important source of decisional support for many people. Four studies reported that patients acquired information about or discussed PGT with their friends during decision-making (Gebhart et al., 2016; Haude et al., 2017; Hershberger et al., 2012; K.N. et al., 2019). Additionally, one study reported that partners were one of the major sources of decisional support (Haude et al., 2017). Other family members besides partners also provided decisional support when patients considered PGT (Gebhart et al., 2016; Hershberger et al., 2012).
      (c) Health professionals
      Health professionals were another important source of support contributing to patients’ decision-making. Included studies referred to different health professionals who provide decisional support, including experts in the PGT area, physicians, medical professionals, clinic providers, clinicians, genetic counsellors, nurses and psychologists (Gebhart et al., 2016; Haude et al., 2017; Hershberger et al., 2012; K.N. et al., 2019; Meister et al., 2005; Quinn et al., 2018).
      Sources of decisional support that need improvement
      Although previous studies indicated that a wide range of health professionals provided decisional support for patients, some groups of clinicians offered relatively less support during patients’ decision-making. One study reported that referring obstetricians and gynaecologists provided the least information on PGT (Gebhart et al., 2016).
      DISCUSSION
      By reviewing published studies in the area of decision-making about PGT, decisional needs and sources of decisional support contributing to decision-making were identified, as well as barriers to decision-making and aspects of support provision that needed improvement.
      Regarding decisional needs, the reviewed studies covered a wide range of topics on which patients desired information. Unsurprisingly, patients’ needs for information about PGT treatment were predominant. As PGT involves sophisticated and multiple procedures including IVF processes, most patients are unaware of, or unfamiliar with, the details of PGT (Rich et al., 2014). Furthermore, when medical terminology is used to describe the PGT procedure, understanding the information conveyed becomes difficult (Reumkens et al., 2018). One study showed that people generally have a low level of knowledge when they hear about PGT for the first time (Sekhon et al., 2018). For this reason, there is a critical need for education about PGT, which includes information directly relevant to the PGT process, information on health care relating to treatment and other information including cost and different reproductive options.
      Though providing the above information on PGT to patients is essential, patients’ information needs may vary during different decision-making stages, and as such information should be provided with different emphasis during each phase. This review integrated patients’ information needs based on the decision-making stages described by Hershberger et al. (2012). Specifically, a new patient may seek a wide range of information and have active discussions with health care providers to acquire information about their at-risk status and treatments including PGT. Thus, for patients in the first decision-making phase, health care providers are recommended to offer information directly relevant to PGT such as success rates of PGT, procedures and techniques involved in the PGT process, as well as safety and health issues (refer to Figure 4 for a full list of topics). For patients who have already been provided with various information and are exploring different reproductive options, they may prefer to learn more about the feasibility of other reproductive options, which should then be the focus of information provision. For patients who are still struggling with whether to use PGT during the third decision-making phase, information needs overlap with those during the first two phases. Health care providers are recommended placing more emphasis on coping strategies relevant to PGT, success rates of PGT, psychological burden related to PGT and feasibility of other reproductive options.
      This systematic review also identified patients’ needs for an appropriate way of receiving information on PGT. As previously stated, written information in lay language can make it easier for patients to engage in self-directed research after the consultation and to access other sources of information. Also, images, videos and narrative stories can make the explanations more vivid and clearer. Previous studies have confirmed the role of narrative stories in decision-making and found that patients felt relieved after reading about someone else's similar experiences (Haude et al., 2017; Rubin et al., 2018).
      This review also found that individuals who provide the information will influence the decision. Based on the studies reviewed, patients prefer to receive information from authoritative people, such as genetic counsellors and treating physicians (Meister et al., 2005; Quinn et al., 2018). Therefore, provision of decision support through health professionals may be most helpful to patients, as opposed to online information and dissemination through other channels. Results also showed that preferences regarding the timing of receiving information varied, indicating that patients should be offered information on PGT at the time of their initial pre-test visit as well as after obtaining genetic testing results. Regarding patients’ other preferences, though they were not the focus of this systematic review, it should be noted that patients may have a preference when weighing different treatment options. For example, one study indicated that patients who were undergoing IVF/intracytoplasmic sperm injection treatment preferred PGT to screen for Down syndrome rather than prenatal testing (Twisk et al., 2007). Given this kind of preference, it is suggested that clinicians offer PGT as an alternative in addition to other options.
      Another decisional need identified was a need for values clarification exercises. Values clarification exercises allow patients to weigh their preference and values and to reflect on their thoughts. Values clarification exercises are commonly used in decision aids and can help patients establish an overview of preferences and values (O'connor et al., 2005). To the best of our knowledge, currently no decision aids are available for patients considering PGT. However, recently a research team investigated patients’ needs for a decision aid on PGT, and as a result the team is now developing a decision aid regarding PGT to assist patients with decision-making in this area (Reumkens et al., 2019).
      Despite the fact that patients prefer to receive information to inform and support their decision-making, information that is too detailed and voluminous is not welcomed by patients. Thus, health professionals should pay attention to the content and volume of information when they discuss PGT with patients and ensure that patients are not overloaded with the information provided. Also, the use of non-medical language is preferred in communication between patients and health professionals (Reumkens et al., 2018). A review has indicated the importance of lay language in physician-patient communication and suggests health professionals use lay language when they communicate with patients, which includes offering information in a simple, succinct and accurate manner (Warde et al., 2018).
      Although various decisional needs were identified as mentioned above, these decisional needs were identified among patients. From a health professional's perspective, IVF staffs’ clinical expertise and laboratories’ quality in performing IVF and PGT are also crucial for a successful pregnancy (Tur-Kaspa, 2012). For example, an experienced IVF specialist can tailor appropriate protocols for patients’ ovarian stimulation, and a high-quality laboratory is experienced at performing PGT testing and providing reliable testing results (Tur-Kaspa, 2012). Therefore, information on IVF staffs’ clinical expertise should be provided to patients to meet their decisional need. In addition, patients should be informed about whether the specific IVF center has experience in performing PGT. If the center lacks such experience, patients should be informed whether national or international collaborations are available (Tur-Kaspa, 2012).
      Regarding the sources of decisional support, patients have identified mass media, significant persons in their life and health professionals. However, the mass media modalities identified vary. While one of the studies conducted more than a decade ago reviewed mass media such as television, print mass media and radio as important sources of decisional support, online mass media may now be more appropriate ways to deliver supportive information (Meister et al., 2005).
      Although health professionals are an important potential source of decisional support, referring obstetricians and gynaecologists reportedly provided relatively less support with patients’ decision-making (Gebhart et al., 2016). This might be because referring obstetricians and gynaecologists have limited knowledge of PGT and are therefore not confident in offering much information about PGT. A previous study found that there was a varied level of knowledge on the PGT success rate among obstetricians, and those who had received training on PGT for continuing professional development were more likely to initiate a discussion on PGT with patients (Morrow et al., 2016). Other physicians also showed a substantial gap in knowledge about PGT (Tur-Kaspa et al., 2014). A study revealed that more than 90% of investigated physicians felt unqualified in answering patients’ PGT related questions and never recommended PGT to their patients (໿Klitzman, R. et al., 2013). The study also showed ໿internists’ uncertainty in referring patients for PGT. Although physicians such as ໿internists and neurologists are experienced in the diagnosis of ໿inherited neurological disorders, they lack up-to-date knowledge on genetics, IVF and PGT (Tur-Kaspa, 2014).Given that PGT provides an alternative in patients’ reproductive decision-making, it is essential to equip physicians with a general knowledge of PGT such as indications for PGT, safety, ethical considerations, available non-disclosure PGT, and potential advantages and disadvantages of PGT, such that physicians can communicate the available alternatives to patients at different stages in the PGT process.
      LIMITATIONS
      This systematic review was unable to identify decisional needs and sources of decisional support specifically for patients considering PGT-M, PGT-SR and PGT-A. Instead, this review discussed the decisional needs and sources of decisional support more generally for patients considering PGT. This was because some of the included studies published before 2017 used the term PGD, which could be applied for both patients with single gene disorders, as well as those with structural rearrangements. For this reason, it was not clear whether their results pertained specifically to patients considering PGT-M or PGT-SR. As for PGT-A, though decisional needs among patients using PGT-A were presented separately from those of patients using PGT-M/PGT-SR due to their genetic status, the description of patients’ decisional needs in relation to PGT-A may not be comprehensive, because only one study related to the PGT-A setting was eligible for inclusion in this review. Thus, this review discussed the enablers and barriers to decision-making generally, and results arising from this review can be applied to PGT in general such as providing patients with information on the cost of PGT. However, the specific costs of PGT-M, PGT-SR and PGT-A may vary. Also, this review did not generate results about the decisional needs of patients using PGT with human leukocyte antigens (HLA) matching, since this review focused on preimplantation genetic screening and preimplantation genetic diagnosis as used originally. Thus, ‘PGT for HLA’ typing was not a search term in the initial search strategy.
      In addition, ‘IVF’ was not a search term, thereby excluding studies that had looked at the decisional needs for IVF only. This is because the focus of this review was on PGT and not on the underpinning IVF technology, as not everyone accessing IVF utilises PGT. Therefore, this review did not identify decisional needs of patients using IVF. On the contrary, the review specifically addresses the kinds of decisional support patients need, and the sources from which support is acquired when patients consider PGT.
      This review was also unable to generate results specifically for patients with different education levels and incomes. Given that decision-making regarding PGT involves financial issues and health literacy, patients with different socio-economic backgrounds and education levels might vary in their decisional needs and preferred sources of decisional support. However, this review was not able to elucidate these relationships due to the lack of explicit measurements of education level and income in included studies.
      Another limitation was that this review omitted articles published in non-English language due to the inclusion criteria. As a result, there might be additional findings in excluded non-English articles.
      CONCLUSIONS AND IMPLICATIONS
      This review highlights that it is essential to develop decision aid/s for patients considering PGT, and that including innovative formats in decision aid/s like videos, images, narrative stories may be needed, as well as values clarification exercises to evaluate patients’ preference and values.
      Although four enablers of decision-making were identified, health care providers should offer decisional help with different emphasis depending on patients’ specific decision-making phases. In clinical practice, information provision for new patients should focus on information on the IVF and PGT process, as well as the relevant success rates and safety issues. For patients who already have a basic understanding about PGT and their own at-risk status, information on reproductive options is preferred, since this may help to widen patients’ choices. For patients hesitating to use PGT, health care providers should focus on information about the expected psychological burden and related psychological coping strategies relating to PGT.
      Given the low level of knowledge about PGT among the general public, education should be provided for patients as necessary. However, a general introduction to PGT is required to avoid overwhelming patients with large amounts of information. Health professionals can have further discussions if patients are interested to learn more. In addition, it is necessary to provide clinicians with continuing professional education on PGT in order to enhance their skills in informing patients with up-to-date and comprehensive information on all available reproductive options.
      ACKNOWLEDGEMENTS
      L.C. was supported by a University International Postgraduate Award under the Australian Government Research Training Program (RTP) scholarship. B.M. was supported by a National Health and Medical Research Council of Australia Senior Research Fellowship Level B (ID 1078523).
      DISCLOSURE
      The authors declare no conflicts of interest.
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      Appendix. Supplementary materials

      Biography

      Lin Cheng is a final year PhD candidate at Prince of Wales Clinical School, the University of New South Wales, studying patients’ decision-making in preimplantation genetic testing area. She is interested in pursuing a future research career in improving reproductive health care.
      Key message
      To our knowledge, this is the first review systematically synthesise patients’ decisional needs and sources of decisional support in PGT area. Both enablers and barriers were identified. Results may help health professionals provide patients with optimal health care and facilitate shared decision-making.