Disclosure of genetic information to relatives in Israel: between privacy and familial responsibility

Abstract

This article presents findings from a large quantitative-based study conducted in Israel in eight genetic clinics across the country regarding patients’ attitudes to disclosure of genetic information to relatives. The study examines the similarities and differences between the two largest groups who visit genetic clinics in Israel – for prenatal screening and for carrier testing for cancer. It was found that the overall rate of intention to inform relatives was high. It was also found that respondents in the cancer group expressed a more familial-based approach than those in the prenatal screening group. In addition, a relatively high rate of non-disclosure was found in the prenatal screening group as compared to the cancer group. These findings are significant in light of a widespread wish in Israeli society to give birth to a child without a disease or disability. A reconsideration of current practices and guidelines in this area is therefore required.

Keywords:

• genetic information
• disclosure
• relatives

Introduction

Genetic information has implications for the patient's biological relatives and for the patient's spouse when reproduction is considered. A patient's test results can predict that biological relatives: (1) will develop adult-onset disorders such as Huntington's; (2) will be at elevated risk of developing adult-onset diseases such as cancer; or (3) might give birth to a child with an early-onset genetic disease such as Cystic Fibrosis. Thus, genetic information has strong familial aspects. Yet, in Western society the patient's rights to autonomy, privacy and confidentiality limit relatives’ access to genetic information, as they provide the patient – subject to exceptional circumstances – with the ultimate authority to decide whether to inform the relatives or not (Beauchamp and Childress 2009). This potentially creates a dilemma for clinicians in this area (Dugan et al. 2003), because they have a duty to protect the patient's interest in controlling the flow of information to others, on the one hand, but also to prevent the risk of physical harm to relatives, on the other (Gilbar 2004).

The familial aspects of genetic information have produced a heated debate regarding the perception of genetic information. Some perceive it as no different from any other type of medical information (Gostin and Hodge 1999, Bell and Bennett 2001, Manson and O'Neill 2007), while others stress that it is exceptional, highlighting its predictive and familial characteristics (Skene 1998, Gilbar 2007a).

The discussion about genetic exceptionalism, as it is termed, relates to the extensive debate about relatives’ access to medical genetic information (Laurie 2002). One viewpoint supports a patient-centered approach and a liberal-individualistic view of autonomy, privacy and confidentiality (Bell and Bennett 2001, Laurie 2002, Clarke 2007), arguing that ultimately the patient should have the authority to control the flow of genetic information conveyed to him/her by the professionals, and that only in exceptional circumstances – when a patient's refusal to inform poses a real and serious physical harm – should relatives be informed (Beauchamp and Childress 2009).

An opposing view holds that relatives should have independent – or at least more flexible – access to genetic information when it becomes available (Gilbar 2007a). The grounds for this approach can be found in communitarian and feminist approaches to patient autonomy, stressing that the patient has a moral responsibility to take the relatives’ interests into account when making decisions which have implications for the relatives’ lives (Hardwig 1990, Donchin 2000). Feminists and proponents of ethics of care argue that the essence of a familial relationship which is based on love, intimacy and mutual respect produces a sense of moral responsibility in the family (Lindemann-Nelson and Lindemann-Nelson 1995, Gilbar 2009). Communitarians believe that not only do individuals have rights (i.e. to make decisions about their lives) but they also have obligations to those who may be affected by their decisions (Etzioni 1995). Therefore, in the context of genetics, when a patient holds information which has implications for the physical and mental health of others, s/he has a moral responsibility to share this information with relatives (Rhodes 1998, Sommerville and English 1999).

Moreover, some researchers point out, the fact that the patient and the biological relatives share the same gene pool should dismiss the patient's claim to exclusively control access to the information (Skene 1998, Knoppers 2002, Lucassen and Parker 2010). Rather, genetic information should be viewed as a joint bank account with all its holders having access to the information (Parker and Lucassen 2004).

Significantly, empirical evidence suggests that a conflict between clinicians and patients over the communication of information to relatives is quite rare (Clarke et al. 2005). Genetic information is treated by clinicians, patients and relatives not only as personal information but also as familial information (Pentz et al. 2005), as patients generally believe that it is their responsibility to inform their relatives (Pentz et al. 2005, Kohut et al. 2007). Studies show that the vast majority of patients intend to disclose genetic information to their relatives (Barsevick et al. 2008, Ceballos et al. 2008), or have already shared it with at least one relative (Lerman et al. 1998, Hughes et al. 2002, Patenaude et al. 2006, Stoffel et al. 2008).

Similarly, proponents of the family-based approach rely on empirical studies which revealed that the reasons patients disclose information to relatives are twofold: to inform them about their health risks (Claes et al. 2003, Gaff et al. 2005, Wolff et al. 2007), but also because they have a close relationship with the relatives (Benson and Britten 1996, Peterson et al. 2003). Studies show that close familial relationships indeed yield a sense of moral responsibility to relatives (Hallowell 1999, Hallowell et al. 2003, D'Agincourt-Cannong 2006, McCann et al. 2009). It appears, therefore, that the fact that the disease is treatable or preventable is not sufficient to lead patients to inform their relatives; a relational aspect is also evident. In the same vein, having a close relationship explains patients’ tendencies to inform first-degree relatives more than second- and third-degree relatives (Claes et al. 2003, McGivern et al. 2004, Stoffel et al. 2008), and to inform spouses with whom patients have an intimate relationship but no blood ties (Peterson et al. 2003). In contrast, the absence of a close relationship, either geographically or emotionally, and family rifts, may lead to non-disclosure to relatives (Hughes et al. 2002, Dugan et al. 2003, Gaff et al. 2007).

In light of this background, and in particular the substantial social and medical impacts which genetics has on health care in Israel (discussed in the next part), we embarked on a first-ever large-scale quantitative study examining the views of Israeli patients who visit genetic clinics, focusing on three aspects: (1) their perception of genetic information (personal, familial); (2) their intention to disclose/not to disclose test results to their relatives; and (3) the reasons for their intention.

The study focuses on the two main groups of people who attend genetic clinics – for the purpose of prenatal carrier screening, and for carrier testing for cancer – and explores the similarities and differences between them regarding disclosure to relatives. Notably, such a comparison has not been conducted so far. Previous studies have been conducted in the context of a particular medical condition (e.g. Huntington's, breast cancer) or early- or late-onset conditions. In as much as the circumstances which lead these two groups to visit genetic clinics are different, it is important to examine whether these differences are associated with differences in the intention to share information with relatives. Moreover, since the policy governing disclosure of genetic information to relatives applies to all patients, irrespective of the type of testing they undergo (Gilbar 2004, 2007b), it is important to see if in practice patients who visit genetic clinics perceive genetic information similarly.

The Israeli context

The provision and use of genetic services in Israel has become increasingly widespread (Rosner et al. 2009). Almost all major hospitals and three of the four public health funds responsible for the provision of public health care services in Israel offer genetic services (counseling and testing). The main purposes are carrier screening before pregnancy, prenatal (fetal) diagnosis, and diagnostic and predictive testing, mainly for cancer.

Carrier screening before pregnancy

Israel's Ministry of Health established a national program for the detection and prevention of birth defects in 1980. Provided to all Israeli citizens free of charge, it includes general newborn screening, prenatal diagnosis for women at increased risk for Down's syndrome and other genetic diseases, and carrier screening for Tay Sachs, Beta Thalassemia, Cystic Fibrosis, and Familial Dysautonomia (Ministry of Health 2010). The public health funds, through their supplementary medical insurance, cover part of the costs of genetic testing for other early-onset diseases such as spinal muscular atrophy (SMA) and Fragile X, as recommended by the Ministry of Health (Ministry of Health 2010).

The relatively wide availability of genetic services corresponds with findings by health sociologists that prospective parents in Israel wish for a perfectly healthy baby (Weiss 2003, Remennick 2006, Hashiloni-Dolev 2007), or a baby without any disease or disability. Women in Israel are willing to undertake various measures, including termination of pregnancy, to avoid this possibility (Rimon-Zarfaty and Jotkowitz 2012). In addition, the uptake of prenatal screening and testing is very high (Birenbaum-Carmeli and Carmeli 2010), especially compared to other countries (Remennick 2006). For example, while in Japan, Denmark and Holland only 4%, 9% and 16%, respectively, of pregnant women over 35 reported undergoing amniocentesis (Matsuda and Suzumori 2000), in Israel one study found that about 30% of pregnant women underwent amniocentesis (Barnoy et al. 2006). Other studies reported that about 51% of Jewish women sought amniocentesis and about 40% of secular new mothers reported having tested for Fragile X (Zlotogora and Leventhal 2000, Sher et al. 2003). This supports the view held by sociologists that Israeli society, and Israeli secular society in particular, seeks the birth of healthy children to the highest degree possible (Raz 2004, Hashiloni-Dolev 2006).

Diagnostic and predictive testing for inherited cancer

Diagnostic testing in the context of hereditary cancers is performed mainly in cases of breast/ovarian cancers and familial/hereditary colon cancer. In the Jewish community, which forms 80% of the population, some 50% of the community – those of Ashkenazi origin – is at a greater risk of being a carrier of one of the known BRCA1 or BRCA2 mutations (Rosner et al. 2009). Testing and counseling are provided free for patients with a family history, subject to particular criteria (Ministry of Health 2004). Regarding colon cancer, no formal guidelines exist so far, although due to heightened awareness by family doctors and relevant specialists, colon cancer patients are often referred for genetic counseling (Rosner et al. 2009).

Regarding predictive testing, first- or second-degree relatives of breast cancer patients who are also BRCA1/2 carriers can be referred for BRCA testing free of charge (Ministry of Health 2004, Rosner et al. 2009). In addition, recently the Ministry of Health has recommended that first-degree relatives of breast cancer patients be screened by mammography every year from the age of 40 (Ministry of Health 2011). Consequently, healthy women undergo BRCA testing and follow-up examinations in one of the several special clinics established in major hospitals for healthy carriers to be checked bi-annually.

As for colon cancer, the Ministry of Health has recommended that first-degree relatives of patients who were diagnosed with HNPCC/Lynch Syndrome should undergo a colonoscopy every year from the age of 25 (Ministry of Health 2011).

Another unique characteristic of Israeli society is the co-existence of liberal, paternalistic and communitarian approaches to moral dilemmas in health care (Gross 1999). This is reflected in legislation and, in our context, in the Genetic Information Act 2000 which regulates the use of genetic information. The Act states that patients have rights to privacy and confidentiality, but it also provides hospital ethics committees with the authority to override a patient's refusal to inform relatives when it concludes that: (1) disclosure can promote the relatives’ health or prevent disease or serious disability; (2) disclosure to the relatives is the only way to achieve these goals; (3) the benefit of disclosure to the relatives outweighs the harm to the patient; or (4) the patient's refusal to disclose is unreasonable. The ethics committee consists of a senior jurist, two clinicians, a social worker or a psychologist, and a clergyman or a public representative. Generally, the committee has the legal authority to resolve disagreements between patients and clinicians over issues of refusal of treatment, confidentiality and communication of information (Gilbar 2007b). Notably, we did not find court decisions in which doctors or relatives tried to challenge patients’ decisions not to inform relatives. In addition, we did not find court decisions regarding appeals by patients against doctors’ decisions to inform relatives. This is probably attributable to the fact that the authority to resolve disagreements regarding disclosure of genetic information to relatives is given to hospital ethics committees. The discussions conducted by these committees are confidential and are not disclosed to the public. However, informal conversations we conducted with several committee chairpersons revealed that disputes between clinicians and patients over disclosure of genetic information to relatives are quite rare.

In light of this background, and based on a qualitative study of patients, relatives and lay people conducted in Israel and Germany regarding their attitude to genetic testing (Raz and Schicktanz 2009a, 2009b), we assumed that the rate of intention to disclose would be high, and that the main reason for disclosure would be to help relatives avoid the birth of a child with a disease, or reduce the risk of developing cancer. We did not anticipate any major difference between the two groups of patients (prenatal and cancer) in our study.

Methods

Sample

This was a convenience sample of 564 respondents who visited genetic clinics for two different purposes: (1) susceptibility testing for hereditary cancers (the cancer group); or (2) genetic testing for recessive early-onset conditions either before or during pregnancy (the prenatal group).

Of this sample, 282 respondents attended the clinics for prenatal screening/testing and 282 for hereditary cancers. Of the 282 respondents in the cancer group, 161 had a family history of cancer (57%). The majority in the cancer group were healthy and had not developed the disease. Demographic data are presented in Table 1.

Table 1.  Demographic variables of the respondents.

Variable	Sample	Prenatal	Cancer
	M ± SD	M ± SD	M ± SD
Age	39.1 ± 13.15	32.79 ± 10.18	45.38 ± 12.78
Number of children	2.22 ± 1.93	1.32 ± 1.70	2.83 ± 1.84
Years of education	15.52 ± 2.94	15.07 ± 2.63	15.95 ± 3.15
	N	N	N
Gender
Male	129	25	104
Female	457	176	281
Place of birth
Israel	429	235	194
Other	123	41	82
Marital status
Married	461	233	228
Single	61	40	21
Divorced	28	4	24
Widow/er	13	5	8
Religion
Jewish	519	252	267
Muslim	11	7	4
Christian	6	4	2
Druze	16	11	5
Family history
Yes	214	53	161
No	336	224	112

Research tools

For the purpose of the study a questionnaire was constructed based on literature about disclosure of genetic information to family members (Hallowell et al. 2003, Peterson et al. 2003, Gaff et al. 2005, Pentz et al. 2005, Kohut et al. 2007, Wolff et al. 2007, Barsevick et al. 2008, Ceballos et al. 2008, McCann et al. 2009). The questionnaire was reviewed for internal validity by four genetic counselors and a medical geneticist to ascertain that it examined the research questions and that the questions were clear. The questionnaire contained three parts:

•	The respondents’ demographic details and the reasons for referral to the clinic.
•	A section consisting of 12 statements requesting the respondents to state their views about the nature of genetic information (Table 2, statements 1–2); in what circumstances they would intend to disclose, for example to first- and second-degree relatives (Table 2, statements 3–4, 6–9); and who bears the responsibility to inform relatives (Table 2, statements 5, 10–12). The answers ranged on a six-point scale from 1 (completely disagree) to 6 (completely agree).
•	A section about the intention to inform relatives and the reasons for it. Respondents who stated that they intend to inform relatives were asked which relatives they intended to inform. Possible answers were: spouse, children, parents, siblings (more than one could be selected). They were also asked why they intended to inform them (more than one reason could be selected), and their main reason for doing so. Respondents who stated that they do not intend to inform were asked to state why, and their main reason.

Table 2.  Respondents' viewpoints regarding disclosure of genetic information to relatives and t-tests comparing the prenatal and cancer groups.

Statements	Prenatal group M ± SD	Cancer group M ± SD	t
1. Genetic information is my personal private information.	4.83 ± 1.50	4.55 ± 1.85	1.99*
2. Genetic information is familial information.	4.84 ± 1.42	5.10 ± 1.45	2.09*
3. I will share the genetic test results I receive with my close relatives (parents, siblings, children).	5.23 ± 126	5.55 ± 1.02	3.24**
4. I will share the genetic test results I receive with my extended family (uncles/aunts, cousins).	3.34 ± 1.77	4.33 ± 1.72	6.66**
5. It is important for me to disclose genetic test results to my relatives.	5.01 ± 1.34	5.35 ± 1.04	3.34**
6. I will share the genetic test results of my carrier status of a genetic disease with my relatives.	5.24 ± 1.14	5.55 ± 0.92	3.50**
7. I will share the genetic test results of a treatable/preventable genetic disease with my relatives.	5.19 ± 1.26	5.64 ± 0.89	4.84**
8. I will disclose the results of genetic testing of an early-onset non-treatable/non-preventable disease to my relatives.	4.95 ± 1.45	4.69 ± 1.70	1.89
9. I will share the genetic test results of a late-onset non-treatable/non-preventable disease with my relatives.	5.12 ± 3.93	4.76 ± 1.57	1.37
10. It is the clinician's responsibility to disclose the information to my relatives.	2.12 ± 1.43	2.11 ± 1.53	0.08
11. It is my responsibility to disclose the information to my relatives.	5.37 ± 0.92	5.59 ± 0.82	2.90**
12. The clinician is at liberty to disclose the genetic information to my relatives according to his/her discretion without my consent.	2.00 ± 1.49	1.97 ± 1.55	1.67
Note: *p < 0.05; **p < 0.01.

Procedure

Data were collected in eight of the 19 outpatient clinics that offer genetic services in Israel. Following receipt of ethical approval by the eight clinics selected, a pilot study was conducted among 56 respondents, which led the authors to amend the questionnaire slightly. Thereafter, data were collected once a week in each clinic over a period of three to four months. Patients at the clinics were approached by a research assistant with the request to fill in the questionnaire after counseling. The type of counseling varied, depending on the internal policy of the clinic. Cancer patients received counseling from a genetic counselor in all the clinics. In the prenatal group, some patients received counseling from a counselor, while others watched a video or were given an information sheet to read. Patients who consented to take part in the study were given oral and written explanations about it by the research assistant. The response rate was 85%. The main reason given for declining to participate was lack of time.

Results

Is genetic information personal or familial?

Broadly, the respondents indicated that genetic information is both personal and familial. When differences between the two groups were examined, the prenatal group showed no difference between the perception of the information as personal and as familial, while the cancer group perceived the information as more familial than personal (t = 3.66; p < 0.01). T-tests confirmed that the respondents in the cancer group believed that the information is more familial than personal (Table 2, statements 1, 2).

The intention to inform the relatives

A high level of intention to inform the nuclear family (parents, children, siblings) was evident, as compared with the level of intention to inform second-degree relatives (aunts, uncles, cousins). This was evident in the prenatal screening group (t = 19.04; p < 0.001) and in the cancer group (t = 12.32; p < 0.001).

Yet, a significant difference was found in terms of level of intention to inform first- and second-degree relatives: it was higher in the cancer group than in the prenatal screening group (Table 2, statements 3, 4). Similarly, while respondents in both groups believed that it was important to inform relatives, the respondents in the cancer group assigned it greater importance (Table 2, statement 5).

Additionally, the ability to prevent/treat a disease had an influence on the respondents’ intention to disclose. The level of intention to disclose in both groups was significantly higher regarding preventable/treatable diseases than non-preventable/untreatable diseases. T-tests of the prenatal screening group showed t = 2.88, p < 0.05, and in the cancer group t = 8.98, p < 0.001 (Table 2, statements 6–9). Again, when asked about preventable/treatable diseases, respondents in the cancer group showed a higher level of intention to disclose as compared to the prenatal group. Yet, if no treatment exists, the level of intention to inform relatives was lower in both groups, with no significant difference between them (Table 2, statements 6–9).

An examination of the relationship between the perception of genetic information (statements 1, 2) and the intention to share the genetic tests results with the family (statement 7) showed a positive correlation between the intention to share information with the family and the perception of genetic information as familial (r = 0.31; p < 0.01). No correlation was found between the intention to disclose and the perception of genetic information as personal (r = –0.07; p = non-significant).

Who bears the responsibility to disclose the information to relatives?

The patients in both groups believed that it is their responsibility – and not the clinicians’ – to inform their relatives. Respondents in the cancer group showed a higher sense of responsibility to disclose the information to relatives as compared to the prenatal screening group. The respondents in both groups believed that the clinician has no right to inform their relatives without their consent (Table 2, statements 10–12).

The reasons for disclosure

The vast majority of respondents intended to disclose the test results to their relatives (94.7%). Of these respondents, 55% stated that their main reason for disclosure was to promote the relatives’ health. The rest chose the following options as the main reason for disclosure: the information is familial and not personal (15.6%); they have a good relationship with the relatives (8.4%); the relative has the right to know (5.5%); and the information has implications for the patient's family life (4.5%).

When comparing the two groups, more respondents in the cancer group (66%) stated that their main reason for informing relatives is to promote their relatives’ health, as compared to 45% in the prenatal group. More respondents in the prenatal group than those in the cancer group stated that the main reason for informing relatives was: (1) the information is familial and not personal (18% vs. 12.8%); (2) they have a good relationship with their relatives (13% vs. 3.5%); and (3) the information has implications for their family life (6% vs. 2.6%).

Non-disclosure

Notably, 5.3% (N = 30) of all respondents indicated they do not intend to inform their relatives. The breakdown was 7.8% (N = 22) in the prenatal group and 2.8% (N = 8) in the cancer group. For 22 of these respondents the main reason was that genetic information is private and personal.

Demographic differences between the respondents who did not intend to disclose their test results to their families and those who intended to disclose were examined (Table 3). We found that the non-disclosure group consisted of more immigrants, non-Jewish respondents and those without a family history of genetic disease as compared to the disclosure group.

Table 3.  Respondents' demographic variables according to intention to disclose/not to disclose.

Variable	Will disclose (N = 534)	Will not disclose (N = 30)
	M ± SD	M ± SD
Age	31.55 ± 9.62	39.51 ± 13.20
Number of children	2.22 ± 1.93	2.00 ± 2.03
Years of education	15.57 ± 2.93	14.63 ± 2.94
Gender
Male	22.4%	30%
Female	77.6%	70%
Place of birth
Israel	78.5%	66.6%
Other	21.5%	33.3%
Marital status
Married	81.8%	80%
Religion
Jewish	93.4%	70%
Other	6.6%	30%
Hereditary disease in family
Yes	39.2%	26.7%
No	59.8%	73.3%

Discussion

The findings of the study accord in several important respects with existing empirical evidence. First, as shown in previous research, the respondents perceived genetic information as both personal and familial (Pentz et al. 2005). In addition, most respondents thought it was their responsibility to inform their relatives (Hallowell 1999, Hallowell et al. 2003). Moreover, the present study shows that respecting the relatives’ right to be informed was not the salient reason for the patients’ intention to inform. Rather, the availability of cure/prevention was the primary predictor of the intention to inform relatives in our study.

Furthermore, the respondents’ greater inclination to inform their partners and first-degree relatives than their second-degree relatives suggests that close familial relationships have a substantial influence on the patient's intention to inform relatives. The fact that genetic information may have health implications for biological relatives was not sufficient when considering whether and to whom they would disclose the information: emotional closeness also had a significant impact as was indicated in previous studies as well (Claes et al. 2003, McGivern et al. 2004, Stoffel et al. 2008). This accords with the bioethical view that intimacy evokes moral responsibility among family members (Lindemann-Nelson and Lindemann-Nelson 1995, Sommerville and English 1999).

Differences between the groups

Respondents in the cancer group expressed a more familial approach than those in the prenatal screening group. They perceived genetic information as familial information to a greater degree than did the respondents in the prenatal screening group. They also indicated a higher rate of intention to inform first- and second-degree relatives than the prenatal screening group, and a lower rate of non-disclosure than the other group. Overall, they showed a high level of responsibility to their relatives, an attitude which replicated that of respondents in previous studies (Hallowell 1999, Hallowell et al. 2003).

There are several possible explanations for the different attitudes of the two groups. First, there were demographic differences, particularly with regard to gender, place of birth and family history (see Table 1). Second, cancer may be perceived as an imminent threat to the patient's own life (in the case of healthy carriers) and to the health of existing relatives (e.g. an adult child or sibling). This is not the case when prospective parents go for prenatal screening. Being at risk of developing cancer may thus cause a higher level of anxiety than being at risk of carrying a recessive early-onset disorder, and it may lead carriers of inherited cancer to be more open with relatives, both to obtain emotional support and to warn them (Hallowell et al. 2005).

Third, the differences between the two groups may be attributed to the testing purpose: while the purpose of testing in the cancer group was to prevent a serious illness or reduce the personal and familial risk of developing it, respondents in the prenatal screening group might have perceived it as a routine procedure before or during pregnancy, related more to family planning than to disease prevention.

A fourth explanation may be attributed to the type of counseling the respondents received before screening. All the respondents in the cancer group discussed the implications of test results with a genetic counselor prior to testing. Yet, not all the respondents in the prenatal group met a genetic counselor before testing: some were given an information sheet which advised them to inform their relatives should they receive positive test results, while others watched a video. Arguably, the impact of a face-to-face discussion with a genetic counselor is greater than the impact of an information sheet when it concerns disclosure to relatives.

Lastly, the personal experience of the respondents in each group may explain the differences between them. Nearly 60% of the respondents in the cancer group had a family history of cancer, which probably triggered their decision to visit a genetic clinic. This might have led them to experience cancer as a familial rather than a private matter and to appreciate that disclosure to relatives is important. Indeed, previous studies indicate that factors associated with disclosure relate to personal and familial experience with cancer (Bradbury et al. 2007, Nycum et al. 2009). By contrast, the respondents seeking prenatal screening were substantially less exposed to genetic disorders in the family (20%), and thus might be less aware of the importance of informing their relatives.

Non-disclosure

The 8% rate of intentional non-disclosure in the prenatal screening group is of particular importance. It contradicts our preliminary assumption that intentional non-disclosure would be negligible. This finding does not accord with a previous study which found that in 40,000 genetic consultations conducted in Britain and Australia, less than 1% of the patients refused to inform relatives (Clarke et al. 2005). It also differs from another clinician-based study, conducted in the US, which found a low rate of non-disclosure to relatives (Dugan et al. 2003). Notably, however, there are methodological differences between our study and the previous two, the most significant being that those studies collected data from clinicians, and in this study data were collected from patients. Additionally, our study focused on intentions, whereas the previous two studies examined actual cases of non-disclosure.

The relatively high rate of intentional non-disclosure in the prenatal screening group (nearly 8%) may have significant implications for public health. If the patient withholds information about a disease for which relatives are not tested or screened (for lack of awareness or other reasons), or if the patient withholds information about a particular mutation which is not routinely checked, and does not disclose it to the relatives, the relatives will not know about it and will be at greater risk of giving birth to a child with this disease. This conflicts with the wish of many prospective parents in Israel to avoid giving birth to a child with disease or disability (Weiss 2003, Remennick 2006). Since, legally, doctors in Israel do not have a duty to inform relatives directly (Gilbar 2007b), and they are not obliged to verify that patients have in fact informed their relatives, this relatively high rate of intention not to inform should be considered seriously by policy makers, as it could be critical for potential parents.

A significant factor in this context is that genetic screening is recommended for all, and its uptake in Israel is high (Birenbaum-Carmeli and Carmeli 2010). The population is encouraged to undergo genetic testing even when individuals are not aware of a particular hereditary condition in their family. Hence, prospective parents do not depend on relatives only if they want to make informed decisions about pregnancy and future children.

Nevertheless, the rate of intentional non-disclosure is alarming in light of the constant emergence of new genetic tests. People who underwent testing in previous pregnancies may not realize that there are additional tests they can currently have. Knowing about a particular hereditary condition in the family (based on information received from a relative who has already taken these tests) will lead them to undergo testing and make informed decisions. Moreover, an awareness of a genetic condition in the family may lead prospective parents to have genetic testing earlier, before pregnancy, and thus have more preventative options, such as pre-implantation genetic diagnosis or chorionic villus sampling (and not just amniocentesis), if they are found to be carriers.

A patient–clinician consultation prior to genetic screening is currently not a uniform practice in prenatal screening in Israel. However, our findings suggest that it is important to have face-to-face counseling before prenatal screening. Discussions about confidentiality and disclosure to relatives before testing should be conducted whether in relation to hereditary cancers or to prenatal screening. These discussions will allow the clinician and the patient to consider not only whether disclosure will promote the relatives’ physical health but also what the psychological implications of the decision (to disclose or not to disclose) are, and its impact on the familial relationship (Gilbar 2007a). Clinicians will then be able to encourage patients to discuss the issue of disclosure with relatives and to reach a familial agreement before genetic information becomes available (Doukas and Berg 2001, Doukas 2003).

A practical solution may be available. Specially trained genetic-information nurses have recently been introduced in the Israeli health care system, whose role is to provide information regarding recommended genetic screening tests based on ethnic origin. The patients’ meetings and conversations with these nurses can be used to discuss disclosure to relatives.

The study has the limitation of focusing exclusively on patients’ views and intentions. Whether intention predicts action remains unknown until a follow-up study is conducted to examine the actual behavior of Israeli patients in practice. The questions for such a study would be whether and how patients disclose genetic information to relatives, and how frequent the phenomenon of patients’ non-disclosure is in practice. Despite this limitation, however, this is a first-time comprehensive study providing data about the attitudes of Israeli patients towards disclosure of genetic information to relatives, and examining the similarities and differences between the two largest groups of patients who visit genetic clinics.

Conclusion

Overall, the views of patients who visit genetic clinics in Israel reflect the tension between two relevant bioethical principles in this context: privacy and moral responsibility to others. Taking into account that the respondents in this study attended genetic clinics for two different purposes, it is important to note that the vast majority of patients in both groups reported their intention to share their genetic test results with their relatives. The finding that people facing two different life challenges show the same attitude towards disclosure to relatives highlights the significance of a sense of mutual moral responsibility in the family. It also suggests that the patients are aware that keeping medical information in confidence is not beneficial for individual family members and for the familial relationship generally.

With regard to the prenatal screening group, the rate of intentional non-disclosure was relatively high. It appeared that a significant group of patients in this group did not see the benefit (either to themselves or to relatives) in disclosing the information to their relatives. Patients may assume that since prenatal screening is part of family planning, their relatives will undergo testing in any case, but this reasoning is speculative. Since doctors are bound by their legal and professional duty of confidentiality, and since the law makes it difficult for doctors to approach relatives and inform them, the patient who holds positive test results about their carrier status in confidence bars a free flow of information within the family. In an era when more can be done to avoid inherited diseases than ever in the past, and when more tests for genetic conditions continue to emerge, this relatively high rate of intentional non-disclosure is a cause for concern for prospective parents in Israel. Since Israeli society is characterized by a strong wish to avoid births of children with disease or disability, more should be done to educate those who undergo carrier screening that disclosure to relatives is highly beneficial in this sense and can promote a common good.

Acknowledgements

We thank the Israel Cancer Association and the International Society of Nurses in Genetics for funding this study. Additionally, we wish to thank the following clinicians, without whose contribution this study could not have been conducted: Dr. Ronen Spiegel and Prof. Stavit Allon-Shalev, HaEmek Medical Centre, Afula; Prof. Zvi Borochowitz, Bnai Zion Medical Centre, Haifa; Prof. Alon Pras and Prof. Eitan Friedman, Sheba Medical Centre, Tel-Hashomer, Tel Aviv; Dr. Shlomit Perry, Rabin Medical Centre, Petah Tikva; Prof. Ephrat Levy-Lahad and Ms. Adi Ben-Yehuda, Shaare Zedek Medical Centre, Jerusalem; Prof. Vardiella Meiner and Dr. Michal Sagi, Hadassah Medical Centre, Jerusalem; Dr. Efrat Dagan and Dr. Arie Drogan, Rambam Medical Centre, Haifa; Dr. Tzipora Falik-Zaccai, Western Galilee Hospital, Nahariya. Special thanks are due to Dr. Yael Hashiloni-Dolev, Academic College Tel Aviv-Yaffo and Mrs. Shiri Shkedi-Rafid, Hebrew University Jerusalem for their insightful comments.