Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community

Breast cancer confers significant morbidity and mortality among women in the USA. Genetic determinants, such as germline pathogenic variants in the BRCA1 and BRCA2 genes, are associated with significantly higher breast and ovarian cancer risk. To address this, Healthy People 2030 has set goals to reduce the female breast cancer death rate, including increasing the proportion of women with a family history of cancer who receive genetic counseling for hereditary breast and ovarian cancer (HBOC) and BRCA1/2 genetic testing based on the most recent guidelines [1]. An estimated 2–7% of breast cancers result from inherited mutations in BRCA1 and BRCA2 [2]. Risk management options include enhanced breast cancer screening with annual mammography and breast MRI, risk-reducing surgeries (i.e., prophylactic mastectomy, bilateral salpingo-oophorectomy), and chemoprevention, all of which have been shown to improve early detection or reduce breast and ovarian cancer incidence and mortality [3‒5]. Counseling and education for BRCA1/2 genetic testing and subsequent screening and preventive measures have also been shown to improve quality of life, reduce psychological distress about cancer, and increase the accuracy of cancer risk perception and knowledge about genetics [6].

Although the prevalence of a BRCA1/2 pathogenic variant is about 1 in 400 (0.25%) in the general population, the prevalence of founder mutations in the BRCA1 (5382insC or 185delAG) and BRCA2 (6174delT) genes is as high as 1 in 40 (2.5%) in the Ashkenazi Jewish population, whose ancestors resided in central and eastern Europe [7, 8]. Population-based BRCA1/2 testing of unselected Ashkenazi Jews compared to family history-based screening identifies about 56% more mutation carriers [9]. In addition, one study has shown that population-based screening is highly cost-effective for Ashkenazi Jewish women 30 years or older [10]. Despite this, multiple patients, healthcare systems, and societal factors are involved in accepting and implementing population-based screening among Ashkenazi Jews. Studies examining attitudes and knowledge about BRCA1/2 genetic testing among Ashkenazi Jewish women found that factors influencing the decision to undergo testing are related to genetic discrimination, accuracy and interpretation of results, cancer risk/prevention options and their efficacy, and the potential impact on other family members [11‒13].

Orthodox Jews comprise one of the major movements of Judaism, sharing a belief in the divine origin of Jewish law (halacha) [14]. Orthodox Jewish communities are growing worldwide due to their high birth and retention rates [15]. In addition, Orthodox Jews often consult with rabbinic and communal authorities in medical decision-making, which is consistent with their religious values [16]. Although the Jewish community is already familiar with genetic testing due to successful screening programs, including Dor Yeshorim for autosomal recessive genetic disorders, there are unique challenges to testing for autosomal dominant BRCA1/2 genes in this understudied Jewish population due to their culture and values [17]. Many Jewish women are unsure about their personal desire or religious obligation to disclose genetic test results to others and the potential consequences [12].

According to one estimate [18], there are over 1.5 million Jews across the eight-county New York metropolitan area, including the counties of the Bronx, Brooklyn, Manhattan, Queens, Staten Island, Nassau, Suffolk, and Westchester (but excluding suburban New Jersey). This area continues to have the greatest concentration of Jewish people of any metropolitan area in the USA, with nearly half a million Jewish people living in Orthodox households, the largest Orthodox community in the country. Over 90% of these individuals are of Ashkenazi Jewish descent. The 144% increase in the number of people in Jewish households in the Washington Heights neighborhood of New York City since 2002 represents the greatest rate of growth among all profiled Jewish areas. Another distinctive feature of the Washington Heights neighborhood is its high proportion of people who identify as Orthodox (21%), the highest of all Manhattan areas. Therefore, this study sought the participation of Ashkenazi Jews in the Orthodox Jewish community of Washington Heights.

In a previous survey study, conducted in Washington Heights in New York City, we found that Orthodox Jewish women tend to seek medical advice from rabbis, especially to find out the halachic implications [19]. After analyzing the surveys and focus groups that were conducted in five towns in New York and New Jersey (including Riverdale, NY; Passaic/Clifton, NJ; Teaneck/Bergen, NJ; Edison/Highland, NJ; and Monsey, NY), we concluded that, in order to increase uptake of BRCA1/2 genetic testing among the Orthodox Jewish population, it is crucial to understand religious and cultural factors, such as stigma and effect on marriageability, and engage religious leaders in raising awareness within the community [20]. Therefore, in the current study, we explored these factors in depth, through the narratives of community members, including women, healthcare providers, genetic counselors, religious leaders, and other stakeholders, around BRCA1/2 genetic testing. Thus, we believe this study is unique and promises to make a significant contribution to the literature because it includes and focuses attention on the voices of not only the women (decision-makers) but also the community members around them (influencers) that play a role in the decision-making process.

This study is part of a community-based participatory research project in which a multi-disciplinary research group at an academic institution collaborated with a Jewish organization whose mission is to conduct and disseminate rigorous research on psycho-social issues in the Orthodox Jewish community [19‒22]. We conducted this study to better understand the social, cultural, and religious factors that influence Orthodox Jewish women’s medical decision-making around BRCA1/2 genetic testing.

The research team identified key stakeholders and invited them, via face-to-face, telephone, and email, to participate in a dialog. Participants included physicians (medical and surgical oncologists), nurse practitioners, breast cancer experts (director of breast cancer prevention, hematology/oncology fellow), genetic counselors, medical advocates (who bridge the gap between Orthodox Jewish individuals and medical services provided by the secular community), rabbis, rebbetzins (wives of rabbis/female advisors to women in the community), kallah teachers (who teach women the basics of Jewish marital practices), shadchans (Jewish professional matchmakers), and community organizers. Five of the participants were women from the Orthodox Jewish community who were drawn from focus groups we previously conducted in Washington Heights [20] and who were identified as representing a range of perspectives in the focus groups. All study activities were approved by the Columbia University Medical Center Institutional Review Board, and all participants provided informed consent [19, 20, 22].

The stakeholder dialog, which was conducted in June 2015 at Columbia University Irving Medical Center in Washington Heights, included 49 participants and lasted about 6 h. Only participants and researchers were present. The goal of the meeting was to stimulate discussion among stakeholders on the medical and social issues surrounding BRCA1/2 genetic testing. We identified important factors, key challenges, opportunities, and action steps for BRCA1/2 genetic testing among Orthodox Jews. The agenda of the stakeholder dialog was divided into two parts: (1) where we are now (medical overview, halachic considerations, sociocultural considerations, attitudes, and behaviors); and (2) where we could go (brainstorming community policies, actions, and next steps). A presentation of the Orthodox Jewish women’s focus group findings [20] was followed by a plenary discussion to identify different perspectives from the medical, legal, ethical, sociocultural, and religious stakeholders. The stakeholder dialog was audio-recorded and transcribed.

Transcripts of the stakeholder discussions were coded and analyzed using Grounded Theory and Narrative Research. To analyze the qualitative data (80 pages, 28,257 words), two female coders (H.Y. and M.S.T.) met to develop a codebook of themes and conduct a content analysis. H.Y. (MPA) was a doctoral candidate in health education and a certified ATLAS.ti consultant with several years of experience in qualitative research. M.S.T. (MD, MS) was a physician in oncology who completed coursework and formal training in qualitative analysis. All the transcripts were uploaded into ATLAS.ti software to enable investigators to code, build the codebook, and group the codes into themes. The coders met regularly to agree on the definitions of themes/sub-themes, modify the codebook, and eventually create a finalized version. The goal was to establish a common understanding of the codes. The discrepancies between the two coders were discussed, and the coding of each transcript was compared consecutively [23]. After the final codes were defined, the two coders – both experienced researchers in the health field that were not from the Jewish community – independently coded the transcripts. An Orthodox Jewish researcher (R.S.) familiar with qualitative analysis then conducted an independent audit by reviewing the transcripts and analysis.

Inter-rater reliability was calculated using Scott’s Pi measure, an inter-coder agreement index that calculates content analysis reliability [24]. A final comparison of the codebook using Scott’s Pi measure was 0.7091, or 71% agreement between the coders. A COREQ checklist [25] was utilized to report qualitative research (online suppl. material A; for all online suppl. material, see https://doi.org/10.1159/000536391).

As shown in Table 1, among the 49 participants, 17 were employed in healthcare, 18 were involved in providing religious and Jewish education to the community, including rabbis, kallah teachers, and rebbetzins, 9 were in academia, and 5 were women that had been involved previously in focus groups conducted by our research team. Specifically, participants in the stakeholder dialog included the following occupations: genetic counselors (n = 4), medical advocates (n = 2), nurse practitioner (n = 1), physicians (n = 10), rabbis (n = 9), rebbetzins (n = 3), shadchans (n = 2), kallah teachers (n = 3), principal (n = 1), professors (n = 8), and project manager (n = 1).

The final codes that were utilized for the analysis are presented in Table 2. The themes that emerged from the stakeholder dialog around medical decision-making are summarized below. Since there were 49 participants in the stakeholder dialog, we were not able to identify participants for each quotation.

Education/prevention was repeatedly discussed as necessary to break down barriers to genetic testing. Participants said that “educating the Jewish community that genetic testing will save lives” would be essential. Identifying women with BRCA1/2 pathogenic variants would not only reduce their risk of dying but would also have a huge impact on other family members (“I think the focus needs to be because if women are identified with a BRCA1 mutation, then there is a huge opportunity to not only prevent them from being diagnosed with breast cancer but to also prevent them from dying of breast cancer, which has a huge impact on the other members of the family.”).

However, there were also barriers to genetic testing, such as negative emotions, impact on family/romantic relationships, and cost. According to the discussions, negative emotions would be an obstacle. A participant stated that “education would not help because emotions are stronger than the mind.” Also, a woman dealing with depression and obsessive-compulsive disorder (OCD) said that she decided not to get tested because of her mental health diagnosis and for the potential negative impact on her marriage. The impact on family and stigma were crucial topics that were brought up in the dialog. Participants agreed that “stigma and fear of marrying into families” with BRCA1/2 pathogenic variants interfere with the uptake of genetic testing (“It contributes to this stigma and fear of marrying into families where someone has a BRCA1/2 mutation, and it keeps women from coming in to being tested in the first place. It would be extraordinarily important to talk about the steps that can be taken to manage risk, to prevent it being passed on to your children.”). Some participants were concerned that even the unaffected siblings of BRCA1/2 carriers “will not be able to do a shidduch (matchmaking)… I can tell you from my experience this is going to break entire families.”). Therefore, education on the consequences of being a carrier, steps to manage cancer risk and prevent cancer, and reducing the probability of passing it on to one’s children were discussed as important information for the Jewish community. The impact of disclosing a BRCA1/2 pathogenic variant in romantic relationships was another barrier to genetic testing. Knowing that one has a BRCA1/2 pathogenic variant was considered a weight that needed to be disclosed to a potential spouse, who now would have to make a big decision (“Just knowing I have a breast cancer gene is just going to be another weight like I have to tell a boy and he’s going to have to make a big decision and what’s it going to help anyway?”). Insurance not covering the cost of BRCA1/2 genetic testing or consulting a genetic counselor was another barrier (“I was in the process of deciding whether to get breast cancer testing after my insurance had denied it; I was being asked to pay out of pocket.”).

Participants supported the role of religious leaders by claiming that “the rabbonim (rabbis) have to be educated” to help advise patients. Rabbis encouraging genetic testing was suggested if there is a family history (“If there’s a family history, it should be encouraged, maybe by the rabbonim themselves who know about these things, to try to get additional testing.”). However, some said that “there’s no standard protocol from the frum (religious) community.”

Increased access to preventive options was the main reason why stakeholders supported the role of healthcare professionals in the decision-making process. For instance, they discussed developing a realistic solution to the concerns about the negative impacts of genetic results so that women who are at high risk for breast cancer due to a BRCA1/2 pathogenic mutation can learn about effective risk-reducing management options and can be counseled the right way (“I’m so grateful that we have this meeting today so we can figure out strategies, to come up with a realistic solution so that women who really are at high risk of breast cancer can have effective screening and effective treating and can be counseled the right way, so this is an enormous opportunity.”). Education about the value of genetic counseling was brought up as a means to empower high-risk women when making medical decisions (“Those should be educated that it’s a good thing to go into counseling so that they get a more deep, more detailed information so that they’re empowered to make the decisions.”). Participants believed that prevention will be possible when women follow recommendations from experts in the medical field (“If we want to help people, we have to make sure they make mammograms, ultrasounds, MRIs, or whatever is recommended by the medical community to do prevention. This way, you don’t do harm.”).

On the other hand, some participants were less enthusiastic about the role of medical professionals when making medical decisions in this population. Genetic counselors and doctors were seen as suggesting procedures that might involve a transgression of halacha. However, this interpretation might vary, and we did not attempt to make that determination in this analysis (“There are a lot of offerings the genetic counselor does which is totally against the Torah [the first five books of the Hebrew Bible].”). Participants stated that these medical professionals do not consider mental health issues or social problems in their recommendations and do not respect people who choose not to get tested (“I was ridiculed by my doctor for this [decision not to get tested]. I think we need to focus on training doctors for this, for proper informed consent and to respect people who chose not to.”). Not having enough genetic counselors was another concern (“There aren’t enough genetic counselors around to be able to counsel every single person.”).

The influential factors were knowledge, health, and community. A participant said that women could change their decisions if they had the knowledge that getting tested could help prevent cancer (“Maybe women who said, ‘No, I’m not going to get tested,’ if they would have known that a test result could help prevent cancer then that could completely change their decision.”). In addition, participants discussed the possibility that people might decide not to get tested due to their physical and mental health (“I think there are legitimate reasons why people decide not to get tested whether physiological, physical, mental health.”). Community leaders, members of the medical community (including genetic counselors), and misperceptions from the community were factors that could influence the uptake of genetic testing (“Misperceptions, and perhaps misconceptions from the general community, and what responsibility do we have toward that factor and to affect that factor?”). The importance of including men in the Orthodox Jewish community in the genetic testing discussion was also mentioned (“The men in the community need to understand what the issues are for their wives and daughters and sisters.”).

The disclosure of genetic testing results was discussed by various stakeholders. While some believed that everything should be disclosed (“I’m a big believer in disclosure that everything should be disclosed, that you know about”), some advocated that obligations to disclose information related to genetic testing may be subjective (“Some factors are more universal or considered to be more universal, the assumption is that anyone would want to know about certain things, so therefore an automatic obligation to disclose such information; other elements are more subjective, so where exactly does any of this fit in? Is something that is clear obligation even if one is not asked?”). Also, whether there is an “obligation to disclose the results with the person you are considering marrying” was brought up during the discussion (“Is that fooling the husband by not disclosing the possibility? Yes.”). One participant said that “community education about disclosing information about potential matches” is needed.

There was a discussion about where and how to implement genetic testing. Kallah teachers (who teach women the basics of Jewish marital practice) were considered a nice fit for the role (“A good place to start is with the kallah class teachers. Because these [women who come to the kallah classes] are a lot of young women, who are about to get married, before they’re pregnant, but at the same time, they really want to undergo testing prior to the marriage.”). Since genetic counselors might not be able to deal with the demand, stakeholders suggested, “thinking about ways to further disseminate it to a broader community” (“Probably the healthcare system isn’t going to have enough resources, genetic counselors to be able to take on that huge influx.”).

Cultural considerations and age were the two sub-themes that emerged around implementation. For cultural reasons, the language will be crucial because “breast cancer” will not be able to be written or spoken in the community (“The subject of language is going to be important in some of the communities because even the phrase ‘breast cancer’ is not going to make it into print or spoken language, and how do you deal with something that you can’t say?”). Since marriage is crucial in Orthodox Jewish culture and typically occurs by the early 20s in many communities, targeting women in their thirties (married) rather than 17–20 (single) was proposed to deal with stigma (“This is something which our community are very concerned, the stigma of [not] getting married, how this will impact, maybe we should be targeting a group, a different age, let’s say thirty years old as opposed to the 17–20 years old.”). There was a discussion about getting testing at a younger or older age. Participants said that testing at a younger age would “prevent the next generation from inheriting the gene,” while testing at an older age would “implement more aggressive treatment to save lives.”

Various participants addressed information needs, including the advantages and disadvantages of genetic testing (“What is the damage you are doing when testing everybody and what is the gain?”), “to what extent one is obligated to disclose results,” whether one has the responsibility to test before seeking a potential spouse (“Is there a responsibility on someone who at the present time is ignorant of the fact that whether she has the breast cancer [gene] or not have the breast cancer [gene] to test before they start going out for a marriage partner?”), whether there is “an obligation to get genetic testing under Jewish law,” and steps to reduce risk (“The question is to address the individuals who have such a diagnosis, so what steps should they take, what steps can they take, are they obligated then to take steps, proactive steps in order to reduce the risk?”).

The following statement from the stakeholder dialog emphasizes that education is important in the medical decision-making process and stress that information about BRCA1/2 genetic testing should be communicated through multiple channels: doctors (healthcare professionals), rabbis (religious figures), and community education programs (community).

“I think first of all education is where it all starts. Empowering people to understand what the issues are and to make their own decisions. But I think that the education piece has to be very sensitive to different communities. I don’t think it can be a uniform education. I think we have to realize that different communities are going to need a different level of education or different context of the information.”

Spreading awareness about genetic testing in the community was seen as multifaceted. “I think we need to be looking at multiple ways… it’s not just through the doctor, and it’s not just through the rabbi; it’s not just through the community education program, but we need to be really creative in thinking about different ways to be approaching the community from different aspects of the community, to be spreading this message of awareness.”

This study aimed to understand the social, cultural, and religious factors influencing medical decision-making about BRCA1/2 genetic testing in the Orthodox Jewish community. The need to educate the community about genetic testing was frequently discussed by stakeholders, as were negative emotions, impact on marriageability, and stigma. The roles of religious leaders and healthcare professionals in medical decision-making were both important. Additionally, important issues were raised around disclosure, implementation, and the multipronged efforts needed to address information needs.

Previous studies have sought to understand issues around BRCA1/2 genetic testing. A population-based survey of 200 Ashkenazi Jewish women found that 40% were interested in BRCA1/2 genetic testing, mainly due to a desire to obtain information about their children’s risk. A few women in that study expressed concern or discomfort with the targeting of Jews for genetic testing (17%), but most women (71%) thought there were scientific reasons for testing Jews [11]. In a survey of over 100 breast cancer patients of Ashkenazi Jewish descent who were offered BRCA1/2 genetic testing as part of a research study, the most common motivating factors to undergo testing were a desire to contribute to research that may help the Jewish community and potential benefit to other family members [12]. In Ontario, Canada, 6,179 Ashkenazi Jewish women received BRCA1/2 genetic testing through a population-based screening program, and 93 (1.5%) tested positive [26]. Among the mutation carriers, 11.1% had prophylactic mastectomy, and 89.5% had risk-reducing oophorectomy within 2 years of receiving their genetic test results [7]. Cancer-related distress decreased among those women who underwent risk-reducing surgeries; 98.2% expressed satisfaction with the testing process and would recommend testing to other Jewish women. These studies included a Jewish population of women for whom unique issues may arise surrounding BRCA1/2 genetic testing due to their obligations under Jewish law or ethics [12, 27].

Although these studies collected data from women on the issue of BRCA1/2 genetic testing, the social, cultural, and religious factors that influence medical decision-making in the social and community context have yet to be deeply explored. Social and community context refers to the social settings where people live and act, which includes social relationships and the social, religious, cultural, and other institutions with which they interact [28]. Considering Jewish women's social and community context is important because Orthodox Jews often live in tight-knit communities and are culturally distinct, given their traditional observance of halacha. In secular ethics, autonomy is considered a highly valued feature of healthcare, whereas halacha is based on religiously mandated legal, spiritual, and ethical obligations in a given situation. For Orthodox Jews, halacha regulates nearly every aspect of behavior, including observance of the Sabbath (a day of abstinence from work and of religious observance), dietary laws, and modesty in behavior and dress, and for some segments of the Orthodox community, gender separation in public domains and limited exposure to society outside their community, as well as medical and health decisions [16].

Based on different interpretations of halacha and access to secular outlets, a spectrum of behaviors exists within the Orthodox Jewish community [29]. Although there is a wide range of variation, the most common groupings of Orthodox Judaism are Modern (characterized by greater involvement in secular education and culture), Yeshiva Orthodox (characterized by adherence to rabbinic authority and leadership, with stringent interpretation of Jewish law), and Hasidic (characterized by devotion to a spiritual leader, cultural insularity, and minimization of exposure to secular information outlets). Rabbinic authorities are typically consulted across the three Orthodox denominations to answer shailot, questions related to determining a point of Jewish law, including medical decisions [16].

A relatively unique feature of the Yeshiva and Chasidic communities is the existence of multiple organizations of medical navigators or culture brokers, who are not medical professionals but who act as interlocutors, bridging the gap between Orthodox Jews and medical services provided by the secular community [15]. Given the centrality of these figures, who may have limited knowledge or access to accurate information, it is important to understand the roles of rabbis and communal figures in medical decision-making and their potential ability to disseminate standards of care (i.e., regarding genetic testing).

Medical decision-making research seeks to explain how physicians and patients routinely make decisions and identify both barriers and facilitators to effective decision-making [30]. Good medical decisions are hard to make when uncertainty exists, making it difficult to reach a consensus on the right or best choice. This is a common dilemma in healthcare. While the field emphasizes evidence-based medicine, patients and providers must make complex decisions when evidence is equivocal or consensus among experts is insufficient to guide the selection of available options based on the best available information [31]. According to the Ottawa Decision Support Framework [32], the quality of a decision is determined by having a good decision process and a preference-sensitive decision that includes shared decision-making. This framework assumes that decision-making is a multi-dimensional process that is affected by specific characteristics of the decision, decisional conflict, knowledge and expectations of the health situation and treatment options and outcomes, personal values and preferences, support and resources needed to implement the decision at multiple levels of influence, personal characteristics, and clinical characteristics. Medical decision-making in the Orthodox Jewish population also requires a multi-dimensional process that includes not just the medical community and patient but also potentially the rabbinic role as well [33]. Furthermore, patient autonomy and shared decision-making may require a cultural “tweak” that incorporates unique sociocultural and religious considerations [34].

Various factors that influence medical decision-making around BRCA1/2 genetic testing were explored in this study. The results show that lack of education, the need to understand management options when testing positive for a pathogenic mutation, negative emotions, and the impact on family and marriageability are barriers to genetic testing. Given that marriages in the Orthodox Jewish community occur at younger ages [33] and are often facilitated by a system of matchmaking (shidduchim), some families may decline testing because of fear of reducing desirability to prospective mates for the child being tested, as well as other children and siblings [12].

One study showed that the Jewish community is generally already familiar with genetic testing because of the success of testing programs for genetic disorders, such as Tay-Sachs, an autosomal recessive disease [17]. The Dor Yeshorim program conducts genetic testing for autosomal recessive diseases in the Orthodox Jewish community, and the results of this testing are used by couples considering marriage [29, 35]. The acceptance of Dor Yeshorim is attributed to not directly disclosing each participant’s respective results to the individual. Rather, couples are assessed for genetic complementarity and notified as to whether they are, as a pair, genetically compatible or not. This program has led to a dramatic decrease in the incidence of Tay-Sachs disease and other recessive disorders in the Orthodox community [36]. Due to the successful institutionalization of the testing program, pre-marital genetic testing for Tay-Sachs and other recessive disorders is common practice in the shidduch (matchmaking) process of many parts of the Orthodox community [17]. Learning from the case of Tay-Sachs disease, genetic testing for BRCA1/2 mutations might be accepted if educational and testing options were provided that supported community practices, priorities, and halachic decisions.

However, BRCA1/2 genetic testing is different from Dor Yeshorim. While Dor Yeshorim offers screening for recessive disorders [35], BRCA1/2 pathogenic variants are inherited in an autosomal dominant fashion, and female carriers can take action to reduce the risk of breast and ovarian cancer, including enhanced screening, risk-reducing surgery, and chemoprevention [37]. If testing positive, an individual may be obligated by halacha to disclose the results to family members and potential spouses, which is a potential burden and stigmatizing.

Community members in the stakeholder dialog discussed information needs around genetic testing. Since the information in genetic counseling is complex, researchers have developed decision aids to assist with decision-making related to BRCA1/2 testing. A clustered randomized clinical trial did not find a significant increase in genetic counseling uptake among patients who received patient and clinician decision support versus those who received standard education. However, more than one-third of the ethnically diverse women enrolled in the intervention underwent genetic counseling [38]. Several studies revealed that those who perceive their risk for cancer to be high and who think genetic testing is beneficial are more likely to undertake BRCA1/2 testing [33]. A key national priority in the USA is to identify individuals with inherited cancer predisposition. While numerous organizations recommended genetic counseling to enhance understanding, informed consent, preventive behaviors, and individualized care [39], among those women with breast or ovarian cancer, less than half receive genetic counseling or testing [40‒42]. Only 10% of unaffected carriers of BRCA1/2 pathogenic variants are aware of their status [43].

Decision support tools that increase patient participation in medical decision-making and improve decision outcomes will be beneficial. These tools can be modified based on the needs and relevance of the audience. For instance, it will be possible to engage and educate the Orthodox Jewish population by utilizing patient-centered decision aids that are culturally tailored to Orthodox Jewish women, community members, and religious leaders. Religious leaders can introduce the tools at cultural events to signal that the decision-making is an internal community decision that is not imposed from the outside, thus allowing for cultural congruence to become part of the process. Since this is a religious population where adherence to Jewish law is crucial, discussing breast cancer risk with other community members and rabbinic leadership as part of the medical decision-making process will be critical to establishing a common understanding that is socially agreeable. Results from previous studies also support the significance of stigma and the role of religious leaders in medical decision-making [19, 20, 22].

This study has some limitations. The responses of participants can be affected by the researcher’s presence during the data gathering phase. Second, the population of interest for this study was Orthodox Jews in New York; therefore, the findings may not be generalizable to Jewish communities in other geographic areas. Third, the data for this analysis were collected in 2015. Although Orthodox Jewish culture is generally known to be stable across generations, it is possible that the results may have differed if the data had been collected at another point in time.

Despite these limitations, the study has several notable strengths. Orthodox Jews are an understudied population; thus, this study provides an in-depth exploration of the social, cultural, and religious issues around BRCA1/2 genetic testing in this unique population. Specifically, this study considered the halachic implications and carefully identified the challenges and barriers. To provide external validation of the qualitative analysis and confirm the consistency of the methods, multiple coders met regularly to establish a common understanding of the codes. Utilizing the Grounded Theory approach, this study captured the narratives of Orthodox Jewish community members and key stakeholders, including women, healthcare providers, genetic counselors, and religious leaders around BRCA1/2 genetic testing.

In conclusion, this study gathered the opinions of Orthodox Jewish women (decision-makers) and religious figures, healthcare professionals, and community members around them (influencers) who play a critical role in medical decision-making. Our results provide a unique and significant contribution to the literature by advancing our understanding of the medical decision-making process in this distinct community. Finally, this study has broad implications for engaging community stakeholders within faith-based or culturally distinct communities to ensure better utilization of healthcare services for cancer screening and prevention to improve population health. Further research on the influencers (religious leaders, healthcare professionals, and community members) around BRCA1/2 genetic testing will be essential to gain a better understanding of the Orthodox Jewish community to overcome the barriers to BRCA1/2 testing. Population-based screening of Ashkenazi Jews is highly cost-effective and results in identifying more mutation carriers than family history-based screening [9, 10]. In this religious and cultural group, population-based BRCA1/2 genetic testing will be enhanced when both the decision-makers and influencers both consider BRCA1/2 genetic testing as a socially and religiously acceptable practice in the Orthodox Jewish community.

This study protocol was reviewed and approved by the Columbia University Irving Medical Center (CUIMC) Institutional Review Board, approval number AAA01760. The Teachers College Institutional Review Board also reviewed and approved the study protocol, protocol number 21-180. All participants provided written informed consent.

The authors have no conflicts of interest to disclose.

This publication was supported by the National Center for Advancing Translational Sciences, National Institutes of Health (Grant Nos. 5KL2TR001874, UL1 TR000040, and P30 CA013696), the American Cancer Society Research (Grant No. RSG-17-103-01), and the Susan G. Komen Foundation (Grant No. PDF16378127). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH and funding agencies. Funding agencies had no role to play in the design, conduct, analysis, or writing of the study.

Study design: K.D.C., I.S., and R.K.; data analysis: H.Y. and M.S.T.; writing: H.Y.; review: M.S.T., K.D.C., I.S., P.S.A., W.K.C., J.P.A., and R.K.; editing: M.S.T., K.D.C., I.S., P.S.A., W.K.C., J.P.A., and R.K.; supervision: J.P.A. and R.K. All authors contributed important intellectual content presented and have given final permission to submit for publication.

The data that support the findings of this study are not publicly available due to information that could compromise the privacy of research participants. Further inquiries can be directed to the corresponding author.