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. 2022 May 21;13(4):403–410. doi: 10.1007/s12687-022-00591-2

Comparing the attitudes of physicians and non-physicians toward communicating a patient’s BRCA1 mutation to a first-degree relative against a patient’s wishes

Jane E Zebrack 1,✉, Wei Yang 2, Matthew Milone 3, Max J Coppes 4,5
PMCID: PMC9314507  PMID: 35596048

Abstract

Although genetic testing can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test to at-risk relatives. A sample of 200 participants from Nevada (100 physicians, 100 non-physicians) completed an 11-item questionnaire asking demographic information, familiarity with genetics and genetic testing, and opinions about a physician’s role in a hypothetical case in which a patient does not wish to communicate her BRCA1 mutation to her sister. Although most respondents did not think the physician should notify the sister against the patient’s wishes, more non-physicians (40%) than physicians (23%) contended that the physician should do so (p = 0.0119). Most respondents from both groups agreed that the physician should not have the legal duty to notify the sister, would not be morally justified in sharing genetic test results with the sister, but should have the right to notify a patient’s relatives if the disease is “serious, preventable, and treatable.” More non-physicians than physicians agreed that physicians should have an educational requirement on how to communicate genetic test results to patients and their family (88% vs 65%, p = 0.0002). Most physicians (70%) reported a familiarity/strong familiarity with genetic testing compared to non-physicians (33%; p < 0.0001). Future qualitative research should assess physicians’ understanding of issues surrounding familial communication of genetic test results. Educational interventions to facilitate effective communication to patients and families are needed and welcomed by most physicians. Discrepancies between the attitudes of physicians and patients or the public need to be better understood and addressed.

Keywords: BRCA, Genetic testing, Patient confidentiality, HIPAA, Family communication

Introduction

With significant technological advances and the increasing availability of genetic testing, individuals can gain a wealth of information about their future health. For many patients, genetic testing and genomic sequencing will be able to contribute to their diagnosis, treatments (personalized medicine), and predicted outcomes in ways that were previously unimaginable (Horton and Lucassen 2019).

For Nevadans, the Healthy Nevada Project (HNP) has made genetic testing even more accessible. The HNP is the largest community-based population health study in the world and has sequenced the DNA of more than 50,000 individuals since its launch in 2016. Participants that consent for notification of clinically significant results are informed if they have a genetic mutation for any of the three Center for Disease Control and Prevention (CDC) tier 1 genetic conditions: BRCA-related hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. Patients who test positive for a mutation are offered consultation with a genetic counselor and referred to their primary care physician for follow-up (Healthy Nevada Project 2016).

Genetic testing, while potentially very useful, has shown to be a significant public health concern (Zimmern and Khoury 2012). The goal of disease prevention and early detection within the community must be balanced with ethical issues, public understanding, legal considerations, and patient privacy (Marchant et al. 2020; Rothstein 2018). With improved accuracy and greater accessibility of testing, more clinicians, even those without specific training in genetics, will be using genetic and genomic testing in their practices and need to be knowledgeable about testing techniques, analysis of results, and legal and ethical responsibilities (Marchant et al. 2020).

Studies have shown that physicians report a lack of training in genetics and perceive this to be a barrier to ordering genetic tests for their patients (Schaibley et al. 2022). Health care providers with specialized genetics training have been shown to have greater adherence to genetic counseling guidelines, such as pre-test counseling, and reduce costs because of more appropriate testing practices (Cragun et al. 2015). An analysis of consent forms used for genetic testing has raised concerns that health care professionals may not have adequate education about familial communication and ethical issues that surround genetic testing (Phillips et al. 2020).

Knowledge about a genetic abnormality can be beneficial to relatives since, if hereditary, they are at risk for carrying the same abnormal mutation. Unaffected family members can be screened for the genetic mutation and combat its effects at an earlier stage through monitoring and preventive treatment (American Cancer Society 2021; Stoppler 2019). However, whether an affected patient chooses to disclose his or her genetic mutation to their family members often depends on many factors, including the patient’s knowledge and beliefs, family communication and dynamics, provider awareness and assistance, and accessibility of genetic services (Greenburg and Smith 2016; Srinivasan et al. 2020).

Although the personalized medicine revolution can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test result to his or her potentially at-risk family members. Respecting patient’s wishes to not share genetic information with family can create ethical and legal uncertainties for physicians. Doctors may feel a moral duty to warn the patient’s relatives, even at the risk of breaching physician–patient confidentiality (Wendelsdorf 2018). Furthermore, some experts believe that genetic information should be viewed as belonging to the family rather than exclusively to the individual (the “joint account” model), arguing for disclosure to those at risk (Dheensa et al. 2016a; Parker and Lucassen 2004). However, health care providers have identified perceived barriers associated with the familial approach, and it has not yet been accepted as the standard of care (Dheensa et al. 2017).

In the USA, the issue of sharing a patient’s genetic information with family members has been addressed in previous case law with somewhat varying outcomes. In the case of Pate v. Threlkel (1995), a woman who was diagnosed with medullary thyroid cancer sued her mother’s physician after learning her mother’s thyroid cancer from 3 years prior was associated with a gene that has autosomal dominant inheritance. However, the Florida Supreme Court concluded that the physician notifying the mother of the risk to her children satisfied the duty to warn (Laberge and Burke 2009). In contrast, in Safer v. Estate of Pack (1996), the plaintiff suffered from colorectal cancer due to familial adenomatous polyposis, an autosomal dominant disease that her father had been treated for when she was a minor. Pack sued her father’s physician’s estate, claiming that the physician had the duty to warn her of her risk of developing the condition (Schleiter 2009). The New Jersey court ruled that physicians have a duty to warn members of the patient’s immediate family when the hereditary condition is transferable to offspring (Gammon and Neklason 2015).

Despite the outcome in Safer v. Estate of Pack, the broad consensus within the USA has been that physicians do not have a legal duty to warn relatives of potential inherited risk (Henrikson et al. 2020). Much of this has to do with the 2003 development of the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule, which is a US federal law that prevents physicians from sharing a patient’s Protected Health Information (PHI) (Rothstein 2018). In 2013, the HIPAA Privacy Rule was amended to include that genetic information is health information and therefore protected by HIPAA. An exception to the Privacy Rule gives clinicians the ability to override patient-physician confidentiality when a person or the public is judged to be in danger of serious or immediate harm or to have a high probability of developing a dangerous condition that is preventable or treatable at an early stage (Gallo et al. 2009). Yet, experts in law and genetics conclude that the direct contact of genetically at-risk relatives would not be legally permissible under HIPAA if the patient objects and refuses authorization (Rothstein 2018; Henrikson et al. 2020).

Many states have laws that control the privacy of genetic data (Clayton et al. 2019; National Human Genome Research Institute 2020). Although these laws vary significantly from state-to-state, the federal HIPAA Privacy Rule will override those state laws that are less stringent (National Human Genome Research Institute 2020). Nevada law states that “a patient has a privilege to refuse to disclose and to prevent any other person from disclosing confidential communications among the patient, the patient’s doctor or persons who are participating in the diagnosis or treatment under the direction of the doctor, including members of the patient’s family” (NRS 49.225,1971). Thus, in the state of Nevada, this privilege is held by the patient, not the physician.

Organizations in the USA differ in their recommendations regarding sharing genetic information with at-risk relatives. The American Medical Association’s (AMA) states in their Code of Medical Ethics that physicians must discuss with patients the implications of genetic tests to family members in pre- and post-test counseling and define circumstances under which patients would be expected to notify their relatives. The AMA does not support disclosing genetic information to relatives without the consent of the patient (AMA 2012).

The American Society of Clinical Oncology (ASCO) recommends that physicians address the importance of the communication of genetic test results to family members during the pre-test counseling and informed consent process. They state that the physician’s duty to at-risk relatives is fulfilled by communicating the relatives’ risks to the patient. They do not believe that genetic risk information meets the HIPAA exclusion criteria for disclosing abnormal genetic test results without the patient’s consent (ASCO 2003).

The American Society of Human Genetics (ASHG) policy statement dictates that physicians should inform their patients of the potential genetic risks to the patient’s relatives. In contrast with AMA and ASCO guidelines, the ASHG states that physicians have the right to warn family members if patients refuse to do so themselves; if the harm is serious, imminent, and likely; the relatives are identifiable; prevention and treatment is available; and harm from failure to disclose outweighs the harm that may result from the disclosure (ASHG 1998). However, since the adoption of the HIPAA Privacy Rule in 2003, “it is reasonable to conclude that the ASHG’s exception to the general rule of confidentiality and nondisclosure has been superseded as a matter of law” (Rothstein 2018, p. 287).

International organizations and advisory committees provide guidelines for the communication of genetic information to family members, although these recommendations are often disparate and without clear guidance (Phillips et al. 2021). Many countries have created policies that balance privacy and sharing genetic results with relatives, and it has been suggested that these approaches could provide models of care for the USA (Branum and Wolf 2015).

Research comparing the differences in opinion between physicians and patients or the public regarding the expectations of physicians when a patient does not want to share an abnormal genetic test result with family is scant. A study in Turkey found that more patients seen in genetics clinics (49%) than physicians (26%) thought that genetic information belonged to the family (Akpinar and Ersoy 2014). Regarding public opinion, research suggests that people have strong attitudes about the sharing of information, with preventability and seriousness of disease as increasing the desire for warning at-risk relatives (Heaton and Chico 2016). Furthermore, a study of 33 patients in a UK genetics clinic found that almost all patients perceived a genetic mutation to be familial information (Dheensa et al. 2016a). A systematic review found that the attitudes of the public and/or patients were mixed regarding health care professionals’ responsibilities to share genetic information with patients’ relatives (Dheensa et al. 2016b). The purpose of this exploratory survey was to compare the opinions of patients and physicians (non-genetics specialists) in the State of Nevada regarding how to approach a scenario when a patient refuses to share genetic test results with at-risk family.

Methods

For this pilot study, a convenience sample of 200 was chosen, and quantitative data was obtained using an anonymous, self-administered questionnaire. Draft survey questions were created using a literature search and simple medical terminology with the intent to avoid bias and leading questions. A test-run survey was given to a small sample of physicians and non-physicians for feedback before the questionnaire was finalized. Between January and March of 2019, we surveyed 100 physicians in Nevada and 100 people in Nevada who were not physicians and were not involved in the field of medicine. For the physician group, the survey was administered online via Google Forms and transmitted to participants through email communication. We contacted physicians in Northern Nevada and Las Vegas from a variety of hospitals and clinics and non-genetic specialties, such as primary care, obstetrics and gynecology, and surgery. For non-physicians, the same survey was administered in medical clinics (non-genetic-related clinics) to patients but in paper format. All completed questionnaires were assigned a number, and authors were blinded to physician and patient identification.

In the first section of the questionnaire, the participants were asked about demographic information, including age, gender (female/male), and ethnicity (multiple option check box).

Next, participants were asked the following three questions:

  1. On a scale of 1 to 5, how familiar are you with genetic testing for diseases, such as cancer? (1 = unfamiliar, 5 = very familiar)

  2. On a scale of 1 to 5, how familiar are you with the study of genetics, including genetic mutations, genetic diseases/disorders, and the laws of inheritance? (1 = unfamiliar, 5 = very familiar)

  3. Have you ever had a genetic test through a medical professional (excluding home DNA tests such as 23andMe)?

The following case scenario was then presented:

“A physician finds a BRCA1 mutation (breast cancer gene mutation) in a female patient through a genetic test. The patient clearly states that she does not want to notify her sister of her mutation, despite efforts by the physician to educate the patient about the importance of communicating the test results.”

Background information about the BRCA1 mutation was provided to ensure participants understood the likelihood of a woman with the mutation developing breast cancer (72%) compared to the general population (12%), the medical recommendations for surveillance for those who test positive for the mutation (i.e., clinical breast examinations, screening mammography, other radiologic evaluations (e.g., MRI), avoidance of behaviors that increase the risk of cancer, and when appropriate, prophylactic medications or surgery), and the probability of the sister having the mutation (50%) (National Cancer Institute 2019).

After the case scenario was described, the following five questions were posed to the participants, with “Yes” or “No” answers.

  1. Should the physician notify the sister?

  2. Should it be the physician’s legal duty to contact the sister regarding the abnormal genetic test results?

  3. Is the physician morally justified in sharing the abnormal test results with the sister?

  4. Should the physician have the right to warn the at-risk relative in this situation where the genetic disease is serious, preventable, and treatable, even if it is against the patient’s wishes?

  5. Do you think that physicians should have an educational requirement on how to disclose genetic test results to patients and their family members?

A five-level Likert Scale (1 = unfamiliar and 5 = very familiar) was used to measure the degree of familiarity with genetic testing and the study of genetics. The degrees of familiarity were converted to 1 to 5 point and treated as continuous variables to conduct T tests. The answers for other questions were either “Yes” or “No,” and chi-square tests were utilized to test the statistical significance of these variables.

Results

A total of 100 physicians and 100 non-physicians completed the questionnaire. As exhibited in Table 1, the physician group was 67% male, the median age was in the 45–54 range, and most identified as White (89%). In the non-physician group, 64% were female, the median age was in the 55–64 range, and 89% identified as White.

Table 1.

Age, gender, and ethnicity distributions among participants

Factors Physicians (%) Non-physicians (%)
Total 100 100
Age 18–24 0 1
25–34 3 9
35–44 26 17
45–54 44 19
55–64 17 20
65–74 7 28
75 +  3 6
Gender Female 33 64
Male 67 36
Ethnicity American Indian/Alaskan Native 0 1
Asian 0 1
Black 8 5
Hispanic/Latino 3 5
White 89 89
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The three questions, shown in Table 2, were posed to establish participants’ degree of familiarity and experience with genetics and genetic testing. Of the physician respondents, 70% regarded themselves to be familiar (4)/very familiar (5) with genetic testing for diseases such as cancer, with a mean score of 3.89 (1–5 Likert scale). Fewer non-physician respondents (33%) regarded themselves as familiar/very familiar with genetic testing, with a mean score of 2.93 (p < 0.0001). Of the physician respondents, 68% reported to be familiar/very familiar with the study of genetics, with a mean of 3.91. Fewer non-physician participants (26%) were familiar/very familiar with the study of genetics, with a mean of 2.73 (p < 0.0001). A greater percentage of physician respondents (29%) reported having a previous genetic test through a medical professional, compared to 14% of non-physicians (p = 0.008).

Table 2.

Familiarity and experience with genetic testing and genetics

Rating* Physicians (%) Non-physicians (%)
Total 100 100
Familiarity with genetic testing for disease, such as cancer 1 1 17
2 7 14
3 22 36
4 41 25
5 29 8
Familiarity with study of genetics 1 1 20
2 6 19
3 25 35
4 37 20
5 31 6
Personal history of genetic test through a medical professional (excluding home test) Yes 29 14
No 71 86
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*1, not familiar; 5, very familiar

Table 3 presents the responses of physicians and non-physicians to the five questions regarding the case scenario. There was overall similarity in the majority opinions of physicians and non-physicians. There was a significant difference between the physician group and the non-physician group for contending that the physician should notify the sister (23% vs 40%, p = 0.0119) and that physicians should have an educational requirement on how to disclose genetic test results to patients and their family members (65% vs 88%, p = 0.0002). Most participants from both physician and non-physician groups stated that the physician should not have the legal duty to notify the sister (80% and 70%). Also, most claimed that the physician would not be morally justified in doing so (65% and 51%); however, within the non-physician group, the difference is small (51% no, 49% yes). Slightly more than half of both groups agreed that a physician should have the right to notify an at-risk relative if the genetic disease is serious, preventable, and treatable (53% and 51%). Most participants agreed that there should be a physician educational requirement about disclosing test results to patients and their relatives, but significantly more non-physicians than physicians agreed (88% vs 65%, p = 0.0002).

Table 3.

Responses to patient scenario questions

Answers (yes or no) Physicians (%) Non-physicians (%)
Total 100 100
1. Should the physician notify the sister? Yes 23* 40*
No 77 60
2. Should it be the physician’s legal duty to contact the sister regarding the abnormal genetic test results? Yes 20 30
No 80 70
3. Is the physician morally justified in sharing the abnormal genetic test results with the sister? Yes 35 49
No 65 51
4. Should the physician have the right to warn the at-risk relative in the situation where the genetic disease is serious, preventable, and treatable, even if it is against the patient’s wishes? Yes 53 51
No 47 49
5. Should physicians have an educational requirement on how to disclose genetic test results to patients and their family members? Yes 65** 88**
No 35 12
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*p = 0.0119, **p = 0.0002

Discussion

The goal of this exploratory study was to evaluate the attitudes of physicians and non-physicians in Nevada regarding the notification of a patient’s abnormal BRCA1 test result to a first-degree relative when the patient does not wish to disclose the information.

A physician’s duty to uphold patient confidentiality is generally considered greater than their duty to warn family members with whom they have no patient-physician relationship (Laberge and Burke 2009). Nonetheless, the interpretation of laws regarding genetically at-risk relatives can be very complex, and the differences between professional organizations’ ethical guidelines can create uncertainty.

In this survey, the majority of both groups agreed that the physician should not notify the sister and should not have a legal duty to do so. This is in agreement with HIPAA and Nevada law that the genetic information belongs to the patient and should not be shared unless authorized by the patient. Nevertheless, 23% of the physicians and 40% of the patients opined that the physician should notify the sister (p = 0.0119). We hypothesize that physicians may feel a greater obligation to patient-physician confidentiality or have concerns of legal liability (Dheensa et al. 2017). With regard to the patients, this finding is consistent with the study in Turkey, which found that patients were more likely than physicians to view genetic information as belonging to the whole family (Akpinar and Ersoy 2014).

Question 3 addresses moral considerations, and question 4 addresses a “right to warn” relatives in certain circumstances. In the non-physician group, the respondents were nearly equally divided for both questions. On the other hand, the physician participants were more inclined to reject the moral justification of sharing the information with the sister and were slightly more inclined to advocate for the right of the physician to notify the sister.

An interesting finding from the survey was that although most argued that the physician in this scenario should not be legally required to notify the sister and would not be morally justified in doing so, many claimed that a physician should have the “right” to do so if the genetic disease is “serious, preventable, and treatable, even if it is against the patient’s wishes.” Some survey participants may not have recognized the BRCA1 gene as a “serious, preventable, and treatable” condition. Others, recognizing the complex ethical dilemma, may have wanted some flexibility for the physician to make this determination based on the specific circumstances.

Most participants agreed that there should be a physician educational requirement about disclosing test results to patients and their relatives, but significantly more non-physicians than physicians agreed. Some physicians might be more hesitant to support an educational requirement because it creates additional responsibilities to fulfill or because they feel that they are already sufficiently educated in this regard. This hypothesis is certainly supported by the fact that most physician respondents reported a familiarity or strong familiarity with genetic testing and the study of genetics. In addition, roughly twice the number of physicians reported having a previous genetic test compared to non-physicians. This difference suggests that the responses of the physicians may be affected by a greater knowledge of genetics and experience with testing compared to that of the non-physicians.

However, it is interesting that the majority of physicians (65%) agreed that there should be an educational requirement about how to disclose genetic test results to patients and their families. This may be a reflection of their perceived lack of knowledge and/or experience with familial communication methods and is consistent with previous research on the lack of genetics training for physicians.

This survey had several limitations. As a pilot study, a small sample size of 200 participants was used for simplicity in gaining responses and analyzing data. Additionally, the samples, possibly impacted by selection bias, may not fully represent physicians and citizens of Nevada in terms of demographics. The survey also did not have an “other” category for gender, only “male” and “female” options. During the time of the study, there were 9015 Nevada physicians with active licenses, with 72.3% males and 27.7% females (Nevada State Board of Medical Examiners 2019). Thus, this survey had a slight overrepresentation of female physicians. There is no collection of data on ethnicity, and statistical analysis of age would require compiling the information by hand, limiting the ability to conclude if the sample was representative. At the time of the study, the citizens of Nevada were 49.8% female and 50.2% male, and the self-reported racial makeup was 50.1% White, 29.8% Hispanic, 9.8% Asian or Pacific Islander, 8.7% Black, and 1.1% Native American (Griswold et al. 2019). Thus, this study had an overrepresentation of non-physicians who were female and/or Caucasian and an underrepresentation of non-physicians who were male and/or African American, Hispanic, or Asian.

Another limitation of this survey was that the case scenario did not discuss pre-test counseling, informed consent, or the use of genetic counselors. Guidelines strongly recommend the use of pre-test counseling and the informed consent process to discuss risks to relatives and situations when patients would be expected to notify family members (AMA 2012; ASCO 2003; ASHG 1998). Furthermore, the role of genetic counselors is to guide and support patients in making decisions based on genetic test results (National Society of Genetic Counselors 2020). Speaking with a genetic counselor before and after genetic testing can help patients better understand what the test means and how it might impact family members (CDC 2020).

Lastly, this study assessed participants’ attitudes about a specific case scenario involving a BRCA1 mutation. This study was not a qualitative study and did not investigate why participants selected the answers that they did, and whether their answers were based on their understanding of BRCA1 risk, federal or state law, ethical recommendations, or personal beliefs. We did not assess the educational level of the non-physician participants, so it is possible that they did not fully understand terminology within the case and questions. Exploring why participants made their choices and assessing their knowledge would be beneficial.

Because legislation, past case law, and ethical guidelines do not always align, physicians may be unsure how to approach such scenarios. Future research by qualitative methods should assess physicians’ understanding of the issues surrounding the communication of genetic test results to relatives. Given the rising use of genetic and genomic testing and the lack of genetics training for most physicians, educational interventions to facilitate effective genetics communication to patients and families are needed and, according to this survey, welcomed by most physicians. Furthermore, there is a continued need to gather, understand, and address public opinions, as there is often a discrepancy between the attitudes of health care providers and patients or the public. Having systems in place such as ethics committees to address difficult cases and protocols for familial communication that assist both health care providers and patients is warranted.

Declarations

Ethics approval

This anonymous survey was a non-interventional study and did not require IRB approval.

Conflict of interest

The authors declare no competing interests.

Footnotes

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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