Family Communication Patterns and Challenges of Huntington’s Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results

Abstract

Background

Communicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk they do not wish to know or discuss. Communication about the decision to pursue testing and test results are especially sensitive in Huntington’s Disease (HD), where individuals often feel strongly about either knowing or not knowing their genetic status.

Objective

To examine family communication patterns of genetic risk, the decision to pursue testing, and test results not just years, but decades after testing for HD, and examine how family communication of genetic risk information affects family relationships over the long-term.

Methods

In this qualitative study, 39 semi-structured interviews were conducted with probands who went through genetic testing for HD. Clinic notes from these individuals were also analyzed.

Results

Family communication patterns varied based on relation (e.g. significant others, child, extended family) and were influenced by a variety of factors. Sharing with spouses and children had a positive influence on the relationship in most cases. Sharing with extended family members had varying effects on relationships. Negative effects were more likely when family members were in denial, had not pursued testing for themselves, or did not support testing.

Conclusion

Communication to significant others and children, should be discussed with and supported in individuals seeking testing for HD, but for extended family members, potential effects on the relationship, emotional distress, and benefits should be discussed and weighed.

Introduction

Huntington’s Disease (HD) is a progressive neurodegenerative disease for which no cure or highly effective treatment is available. Symptom onset typically occurs in the fifth decade of life, though age of onset can vary widely from childhood to old age, and progresses over time [1]. Symptoms include involuntary movements, cognitive deterioration, and affective symptoms.

In 1983, HD became the first genetic disease gene mapped using DNA polymorphisms. Linkage tests, which enabled presymptomatic testing for HD, were developed in 1986 but required blood or tissue samples from several relatives in order to determine the genetic status of the person seeking testing. Some at-risk individuals were unable to pursue presymptomatic testing if relatives were unwilling or unable to provide samples. Some relatives refused to provide samples because often they did not want to know their own status or because they disapproved of the efforts of others to do so [2]. Direct testing for HD became available in 1993, eliminating the need for blood or tissue samples from family members. Presymptomatic testing for HD was first offered in the context of two clinical trials. One of these trials was the Johns Hopkins Huntington’s presymptomatic testing protocol (JH HD presymptomatic protocol), which enrolled 278 individuals between 1986 and 1998.

The JH HD presymptomatic protocol was highly structured and carefully designed to avoid adverse outcomes to the extent possible. All individuals were required have a study partner for emotional support and to serve as a liaison with project staff in the event of difficulties. Prior to testing, individuals were required to participate in five pre-test assessment and counseling sessions with a psychologist to ensure absence of symptoms, collect pre-test psychological data, and to discuss the genetic test, possible outcomes of testing, and the possible emotional effects the test might have on individuals and their family members. After disclosure of test results, individuals participated in eight in-person follow-up appointments over a three-year period [3]. Because HD is one of the first diseases for which genetic testing was offered, early experience with the JH HD presymptomatic protocol cohort provided insight into how such testing affects both individuals and their family members and shaped our understanding of the return of genetic test results and genetic testing protocols more generally.

Genetic and genomic test results are relevant not only to individuals, but also their family members [4]. As genetic and genomic tests are increasingly being used in research and clinic settings, it is critical we understand the effects on individuals and their family members over the near- and long-term and examine how genetic risk information is communicated before, during, and after testing. Complex issues can arise about whether to inform relatives of genetic risk [5] and many individuals feel burdened by the need to tell family members [6]. Communication to relatives allows individuals to receive emotional support from relatives, allows relatives to be alerted to their own potential health risks they might have and make decisions on how to live with and/or manage that risk, and allows family relationships to be strengthened [7]. However, communication also has the potential to cause harm if relatives are informed of a risk they do not wish to know or discuss. This can create emotional distress to both individuals and family members as well as tension and distance in family relationships [8].

Communication about the decision to pursue testing and test results are especially sensitive in HD, where individuals often feel strongly about either knowing or not knowing their genetic status. While presymptomatic testing can relieve anxiety, testing positive for the expanded repeat can lead to loss of hope, major depression, and suicidal thoughts [8]. The results can also lead to relief of worry and uncertainty associated with not knowing, or with being at risk [10].

While there are studies that have examined family communication of genetic risk information [2, 5, 6, 11, 12, 13] none, to our knowledge, have examined family communication of genetic risk information not just years, but decades after testing, or examined how family communication of genetic risk information affects family relationships over the long-term.

Below we describe a follow-up study with individuals who were enrolled in the original JH HD presymptomatic protocol between 1986 and 1998. We have analyzed both contemporaneous clinic notes from the original presymptomatic protocol and semi-structured interviews conducted in our follow-up study in 2015–2018 to examine if and when individuals communicated HD risk, the decision to pursue testing, and test results to family members and others before, during, and up to three decades after testing.

Materials and Methods

This study was approved by and conducted in accordance with the policies and procedures of the Johns Hopkins IRB. Written informed consent was obtained from all participants included in the study (both at the time of presymptomatic testing and again for the follow-up study). This study was done in accord with the Helsinki Declaration of 1975.

Participants

A total of 278 individuals enrolled in the Johns Hopkins Huntington’s presymptomatic testing protocol between 1986–1998. Of these 278 individuals, 72 dropped out before the disclosure of test results. Of the remaining 206 individuals, 76 were found in the presymptomatic testing protocol to carry an expanded repeat, and 130 were found to carry a normal repeat. Participants were recruited into the current follow-up study through two paths: first, indirectly via fliers posted in the HD clinic, outreach through Huntington Disease Society of America (HDSA) support groups, the HDSA website and trial database (http://www.hdsa.org) and Facebook; second, direct recruitment using last known address. Through indirect recruitment, six individuals demonstrated interest and four were eligible. Though direct recruitment, 101 letters were sent out, and 60 responses were returned. Fifty-five of these responses indicated willingness to participate in the study. Of these 55, 18 had expanded repeats, 32 had normal repeats, and five dropped out before the disclosure of test results. An attempt to enroll equal numbers of males, females, individuals with expanded repeats, and individuals with normal repeats was made. Sixteen individuals were willing to participate but not interviewed due to an over-abundance of responses from individuals who were found to carry normal repeats.

Ultimately, 39 individuals were interviewed for the current study. Of these 39 participants, 15 were found in the presymptomatic testing protocol to carry an expanded repeat, 21 were found to carry a normal repeat, and three dropped out before disclosure of test results. In seven cases, spouses or caregivers were also present during the interview. The mean age of participants was 59.6. Of those in our study with expanded repeats, the majority (9/11) had been clinically diagnosed with HD at the time of the interview.

Data Collection

Semi-structured interviews lasting an average of 68 minutes and ranging from 32 to 112 minutes were conducted by four members of the study team. In most cases, two members of the study team were present during each interview, but in five cases, it was only possible for one interviewer to be present. Members of the study team who conducted interviews included one clinical psychologist, one genetic counselor, and two researchers trained in qualitative research techniques. Interview topics included individuals’ testing experience, reasons for testing, communication of test results, and impact of testing on mental health, relationships, and life decisions. The interview concluded with a series of opinion questions about hypothetical scenarios involving the return of genetic test results and incidental/secondary findings following large-scale genomic sequencing.

Our participants included 20 females and 19 males. Due to the qualitative nature of this work, not every participant answered every question. More specifically, reasons for questions not being answered by some participants included: the semi-structured nature of the interviews, time constraints, and difficulty with memory or focus and energy toward the end of interviews for those affected with HD.

Data Analysis

The interviews were audio recorded, transcribed, and scrubbed of all identifying information. Clinic notes of all participants who were interviewed in the follow-up study were obtained from storage. An initial codebook was developed by all members of the study team from the first five interviews, and was then revised iteratively as more interviews were coded. Examples of some of the codes included in our codebook are: family communication, family trauma, the decision to pursue testing, denial, family history, family tree, family member’s decisions to pursue testing, and many others. All interviews and clinic notes were coded by two study team members, and any conflicts in coding were discussed by the coders and reconciled. QSR International’s qualitative analysis Software NVivo 11 was used for open coding in this grounded theory study. Data analysis was conducted both manually and using NVivo 11.

Results

Observed Communication Patterns in the Family

Significant Others

All participants with a significant other at the time of testing (34/39) communicated disease risk, decision to pursue testing, and test result with their significant other and cited their significant other as their primary, or one of their primary, sources of support. In cases where probands knew of their disease risk before meeting their significant other, disease risk was typically communicated while dating and before marriage. In cases where probands learned of their disease risk after meeting their significant other, probands typically informed their significant other very soon, if not immediately, after learning their own risk. The decision to pursue testing was agreed between the proband and her/his significant other for a majority of participants. Only two instances of discordance between a proband and significant other in the decision to pursue testing were reported in our follow-up cohort. In one instance, an at-risk individual was pushed to pursue testing by the spouse, which led to regrets about being tested later on by the individual. Significant others served as study partners for the majority (30/39) of participants. In these cases, significant others were present during the disclosure of test results, since study partners were required to attend pre-test counseling and disclosure sessions. In cases where someone other than the proband’s significant other served as a study partner, probands informed their significant other of their test results right after the disclosure session.

Of the 34 probands with a significant other at the time of testing, 12/34 probands (six individuals with expanded-repeats and six with normal-repeats) reported that their disease risk and/or test result did not impact their relationship. For the remainder of our cohort, 18 (9 individuals with expanded repeats, 8 with normal repeats, and one individual who dropped out before the disclosure of test results) reported communication positively impacted their relationship.

Positive impacts on the relationship included bringing the proband and their significant other closer together and strengthening the relationship.

“It definitely I think brought us more into the present with each other in terms of the relationship and expression [of] appreciation and gratitude toward each other.”

-Interview quote from expanded-repeat proband (Ppt. 111)

Four probands (three expanded repeat and one normal repeat) reported communication negatively impacted their relationship. Seven probands did not have a significant other at the time of testing. Communication was reported to negatively impact the relationship by putting additional strain on the relationship when one partner was unwilling or unable to communicate openly about HD risk, the testing process, or the test result despite attempts to do so by the other partner.

“Unlike [proband], she [proband’s girlfriend] is quite free with comments about her feelings and describes herself as emotionally expressive…[Proband] does not understand [girlfriend’s] way of handling the pressure and is growing weary.”

-Clinic Note from normal-repeat proband (Ppt. 80)

Children

All probands with children (26/39) informed their children of their test result, regardless of gene-mutation status. However, the timing and frequency of communication about HD risk was highly dependent on the age of the children and the proband’s mutation status. About half of probands did not yet have children or had young children at the time of testing, and did not inform their children of HD risk, decision to pursue testing, or test results until children had at least reached their teenage years. Because most probands did not have teenage or older children at the time of testing, children were informed of the decision to pursue testing and test results, but not the proband’s at-risk status prior to testing.

The timing at which probands with expanded repeats communicated test results to their children varied. Some proband’s children had experience with affected family members and were therefore aware of HD from a young age, learning more about the disease and how it is passed on in families as they grew older. Other probands informed their children when they were teenagers, and a few waited until their children were adults and they felt they needed to know, either due to the onset of the proband’s symptoms, or some other “triggering event,” such as when the child began thinking about marriage or having children of their own. All probands with expanded-repeats who had biological (and therefore at-risk) children reported worry about communicating with their children about HD. Individuals with expanded repeats reported more extensive and frequent conversations about HD with their children than those with normal repeats.

A majority of probands with normal repeats communicated their test results to children when children reached at least the teenage years. Individuals with normal repeats reported shorter and less frequent conversations about HD with their children than those with expanded repeats, and in fact, several probands with normal repeats reported they only mentioned their HD risk and decision to pursue testing in passing at one point in time. Normal-repeat individuals with affected or at-risk family members reported more frequent conversations about HD with their children.

While most participants reported communication either did not influence the relationship with their child or positively influenced the relationship by bringing proband and child closer, three individuals with expanded repeats reported communication negatively impacted their relationship with their child. In all three instances, children were informed of their risk as adults or discovered the information from a source other than the parent.

“I didn’t want [the kids] to worry, you know, or worry that every time I said something was it me or was it some disease? (…) The decision was really just to keep them in the dark if you will, until the time came that I thought was appropriate. My son, who was at risk, has some other challenges and alcohol issues. So, I didn’t wanna dump this on him, as he would’ve checked out. But it got to the point where, ‘All right, now I’m getting older. Things are gonna start to show up.’ Like I said, they hadn’t-- didn’t show up at that point but I wanted to be around for my son so I could help him. So, we told them each individually… [my son] he’s the one at risk and took it the hardest.”

- Interview quote from expanded-repeat proband (Ppt 67)

Extended Family

Here the term “extended family” refers to family members other than the proband’s significant other and children. Due to the genetic nature of the disease, at least some family members were aware of the proband’s HD risk in all cases. The degree to which HD risk was discussed among each proband’s extended family varied greatly.

The decision to pursue testing was communicated to at least some extended family members by all individuals tested by linkage, since blood samples from family members were required for linkage testing. Collecting family samples caused significant strain on relationships with family members when relatives were unwilling to provide samples, which was reported frequently. Of the 20 at-risk interviewees who collected family samples for linkage testing, 17 reported difficulty obtaining a sample from one or more family members.

“If I could’ve been tested back then and not had to tell any of my family members that this is what I was doing, because that was just like, that opened all kinds of stuff. That was really, really, really challenging (…) So that whole kind of can of worms—my grandmother, (…), who I had a really good relationship with was really angry with me, really angry with me for going through this. And my sister-in-law was angry with me, too…A lot of people were pissed off at me for being tested.”

- Interview quote from normal-repeat proband (Ppt 3)

The presence of one or more family members who were in denial was reported by 23/39 probands. Family members who were in denial either 1) denied they were affected by HD or 2) denied HD existed in their family. In these families, most probands did not communicate about HD risk with family members in denial.

Communication to extended family members about the decision to pursue testing was dependent on whether or not extended family members were in denial about HD, the attitude of extended family members towards testing, and whether or not extended family members had pursued testing themselves. Probands communicated their decision to be tested to extended family members less frequently when these family members exhibited denial, did not support testing, or had not been tested themselves. When communication did occur to these family members, it usually caused strain on the relationship, even if the proband’s relationship with these family members had been close or otherwise healthy.

“As my dad declined, part of his reaction to that was claiming that he doesn’t have HD, and so that made it really difficult to talk about to either of my parents. I could talk to my mom in private, but we couldn’t talk to my dad because he was just absolutely refusing that anything was wrong and ‘The doctors got it wrong’ and all of that, so I guess it just puts a wedge in your relationship a little bit because you feel like you can’t have an honest conversation about it.”

- Interview quote from expanded-repeat proband (Ppt 75)

A majority of probands communicated their test result to one or more family members to whom they were closest immediately after receiving their result. Most frequently, this was a parent or sibling who was supportive of the decision to be tested, and with whom the proband openly communicated about HD risk and the decision to pursue testing. Most probands reported that communication did not influence relationships with these family members or that communication positively influenced the relationship by bringing the proband and family member closer. However, almost all probands who received a normal repeat result who had a sibling who either had not been tested or had received an expanded-repeat result reported feelings of guilt. Probands in this circumstance reported difficulty communicating with their siblings, and in some instances, negative impacts on the relationship.

“I think the hardest thing about going through it was I didn’t tell my brother I was doing it until I had to. Part of this is it will make you different. My brother and I were the same, okay, we always were the same. Once we had test results, we were different.”

- Interview quote from normal-repeat proband (Ppt. 53)

Test results were generally communicated to some, but not all, other family members at a later time. In some cases, the information was spread passively over time, but in other cases a “triggering event,” such as the death of a family member or HD symptom onset, caused the proband to communicate with extended family members. There was only one instance in which a proband communicated results to all extended family members. Most probands reported that communication with more distant family members did not influence the relationship. However, similar to communication about the decision to be tested, communication about test results caused strain on relationships with family members who were in denial, who did not support testing, or had not been tested themselves. Two probands reported that communication with family members to whom they were not close positively influenced the relationship by bringing them closer together. In these two cases, family members were not reported to be in denial or unsupportive of testing.

“Both [proband’s mother] and [proband’s father] appear to have a positive attitude about HD and said that talking about it has brought the family closer together.”

-Clinic note from expanded-repeat proband (Ppt. 118)

Reported reasons for sharing results with family members included a sense of responsibility to inform other family members about HD risk and testing, obtaining emotional support, preparing others for one’s own symptom onset, and relieving relatives of worry in cases of a normal-repeat result.

“Since disclosure, [proband] is regarded by family as ‘expert’ on HD. She feels a sense of responsibility to brothers and sister (and their friends) to come to terms with the meaning of the disease in the family and their own at-risk status.”

-Clinic note from normal-repeat proband (Ppt.3)

Reported reasons for not sharing results included denial and/or lack of communication about HD in the family, lack of support from family members throughout the testing process, pre-existing conflicts in the family, and feelings of guilt after receiving a normal-repeat result.

“I think if they asked I would tell them but, at the same time, I knew that they didn’t know and I don’t think I wanted to be like too overly happy about knowing (…) I was mad at them. I was, you know, because I just kind of felt all alone and abandoned. And I had a lot of responsibilities at that point in time, and in that regard, I think it affected--I think deep, deep, deep down, I think I probably still have a little bit of resentment, although I think I’ve completely--it was hard for me to forgive them.”

- Interview quote from normal-repeat proband (Ppt. 80)

While probands did report feeling a sense of responsibility to inform other family members about HD risk and testing, parents were seen as having responsibility for informing their children. Some probands reported a desire to communicate HD risk and/or test results with at-risk nieces and/or nephews, but refrained from doing so. Frustration was reported when probands felt they could not communicate information they believed family members (such as nieces and nephews) should know.

Observed Communication Patterns with Others Outside the Family

Often times, one or more close friends were informed of the proband’s HD risk, decision to pursue testing, and test results. Very close friends were typically informed of test results immediately after disclosure. Probands were often highly selective about who they informed of their HD risk due to fear of discrimination or fear they would be viewed differently.

The vast majority of probands did not inform co-workers or bosses of their HD risk due to fear of discrimination. Probands with a normal repeat typically never informed co-workers and/or bosses of their test result, and probands with an expanded repeat often waited until the onset of symptoms to inform co-workers and/or bosses. Some probands with expanded repeats did not inform any family members or others of their test results, aside from their spouse/study partner, until their symptom onset.

“When one person knows something, a lot of times everybody in the company knows it (…) So the whole time I’m sitting there like, I mean, I even had times where I thought, ‘Wonder if they’re looking at me funny or something?’”

- Interview quote from normal-repeat proband (Ppt. 19)

Factors that Appear to Influence Communication Patterns

Family Trauma

Family trauma was reported by almost all probands. Reported family trauma was both directly related to HD (e.g., seeing and/or caring for an affected relative, suicide attempts, death of an affected family member) and indirectly or unrelated to HD (e.g., loss of job, divorce, other serious illness, abuse). The degree of reported family trauma varied among families. An association between more serious family trauma (i.e., verbal or physical abuse) and poor family communication, defined as participants reporting at least one family member was in denial or unwilling to talk about HD, was observed. Thirteen probands reported either physical or verbal abuse, and in all of these instances, poor communication was observed in the family.

Denial

Instances of denial within the family were reported by a majority of probands (23/39). For some probands, affected relatives refused to accept HD risk or an HD diagnosis. For others, HD was simply not talked about in the family. Denial caused tension because often family members in denial did not want to see affected relatives. There was one reported instance of a proband being in denial after receiving their test result, and this influenced the proband’s communication patterns.

Timing

Probands tested by linkage, but not direct testing, had to discuss HD risk and decision to pursue testing with family members to obtain samples. Life events including marriage, the decision to have children, and HD symptom onset also triggered communication about HD risk, decision to pursue testing, and test results in families.

Discussion

Communication between proband and significant other was reported to have positive impacts by strengthening the relationship in most cases, but did cause strain when one partner was unwilling or unable to communicate despite attempts by the other partner. Significant others were cited as primary sources of emotional support. This emotional support, the positive impacts reported, and other factors, including the importance of openness about a disease that has the ability to affect both partners, suggest that communication to a significant other should be recommended and supported.

Open communication either did not influence, or positively influenced, the parent-child relationship. These data and additional data from our group (Stuttgen, McCague, Bollinger, Dvoskin, & Mathews, unpublished data), suggest that children want and can generally handle genetic risk information during childhood. Further, it has been recommended that when possible, communication of genetic risk information to children should first come from the parent, take place in an age-appropriate way and gradually over time [14, 15, 16]. Our data support these recommendations, since negative impacts on the parent-child relationship were reported in all cases where children initially learned of their parent’s HD status from a source other than the parent or were not informed until after they reached adulthood

Several factors appeared to influence whether individuals communicated about HD with extended family members, including the presence of family trauma. A relationship between family trauma and poor communication was observed, suggesting that families with unhealthy psychological coping strategies (e.g., verbal and/or physical abuse) are less likely to exhibit open communication. This trend is concordant with findings of prior studies which have shown that avoidance in family communication is associated with poorer mental health and quality of life [17] as well as low self-esteem, depression, and lower overall well-being [18, 19].

Communication between individuals and extended family members had varying effects on family relationships. Whether communication had positive or negative effects on relationships appeared to be influenced by several factors. Negative effects were more likely when family members were in denial, had not pursued testing for themselves, or did not support testing. This observation is consistent with a study by Quaid and colleagues [11], which investigated the experiences of individuals at risk for HD by interviewing individuals of the PHAROS cohort. Findings of that study reveal that untested individuals are often defensive, conceal their risk, and avoid talking about risk as a strategy to avoid negative emotions and preserve hope.

It should be noted that for some inherited diseases, such as familial cancer syndromes, communicating genetic risk information or test results to relatives may allow relatives to mitigate their disease risk by partaking in cancer screening or prevention strategies. Since there are no proven natural history modifying treatments for HD, communicating genetic risk information or test results to relatives may allow them to plan for potential care-taking roles the future, inform them of their own risk, allow them to make decisions about pursuing presymptomatic testing for themselves, and/or allow them to make more informed decisions about life planning (e.g., reproductive decision-making, education, career, travel, insurance), but it does not enable mitigation of disease risk.

Communication about HD risk, the decision to pursue genetic testing, and test results have the capacity to negatively impact family relationships, especially when relatives are in denial or unsupportive of genetic testing. Since communication has the potential to cause a great deal of emotional distress to both individuals and relatives, the decision to communicate about such information should be carefully considered, and the benefits of such communication should be weighed against the potential negative effects. Whether a family member is at-risk for HD and aware of their HD risk is an important consideration in the decision of whether to communicate genetic test results to family members. If a family member is at-risk but not aware of their risk, information about genetic risk and test results more directly impacts the family member than communicating test results to a family member who is not at-risk or already aware of their risk.

When advising patients on whether to communicate genetic risk or test results to family members, it may be beneficial for providers to ask patients if they have family members in denial and whether family members have pursued genetic testing for themselves. If patients report they have family members in denial, or that their family members are unsupportive of testing or have not pursued testing for themselves, it may be helpful to discuss the challenges and benefits of communication to these family members, and how the patient’s relationship with these family members might be affected and provide guidance and support for these conversations. Genetics providers should also consider follow-on supports for these individuals, including subsequent counselling appointments.

Prior work shows that not all individuals fully understand their results [20] and this may affect communications to others. If individuals do not fully understand their own genetic risk and what their test results mean for themselves and their family members, it is unlikely genetic risk information will be adequately and accurately communicated to family members. Furthermore, if individuals do not feel confident in the understanding of their test results, it is unlikely they will be confident in their ability to communicate the results to others [21]. This highlights the importance of patient education and genetic counseling to ensure patients are fully appreciating their own disease risk, genetic test results, and what their results mean for their family members.

Conclusion

Our findings indicate that communication of genetic risk, the decision to pursue testing, and test results between an individual and her/his significant other as well as her/his children, should be discussed with and supported in individuals seeking presymptomatic HD testing and receiving results. Before communicating to extended family members, the effects communication might have on the relationship, the amount of emotional distress communication might cause the individual and her/his family members, and the potential benefits of informing family members should be discussed and weighed. Additionally, there is currently a lack of comprehensive recommendations and resources on whether and how to communicate with family members, and based on our study, it may be useful for HDSA or other organizations to provide more comprehensive recommendations and/or resources.

Results of this study are relevant to individuals at risk for serious genetic disease and individuals who have pursued genetic testing, as it may be helpful to know how communicating genetic risk information and test results can influence relationships. It is important for genetic counselors and other providers to be aware of family communication patterns regarding genetic risk, and the potential impacts of those patterns on family relationships. This awareness will allow providers to better assist patients in navigating the decision of whether and when to communicate genetic risk information to family members, which is a discussion that should be ongoing and occur prior to genetic testing, at the time results are returned, and during post-return follow-up conversations.

Study Limitations

As part of the JHU HD presymptomatic protocol, individuals received extensive pre- and post-test counseling. Thus, degree of communication from individuals to family members in this study may not be comparable to individuals who receive the current standard of two counseling sessions prior to presymptomatic HD genetic testing since increased understanding of one’s genetic test results is associated with increased confidence in one’s ability to communicate such results (Daly, 2001).

Also, individuals tested by linkage were required to share their decision to pursue testing with some family members in order to obtain family samples for linkage testing. Such disclosure and sample collection was/is not required for direct mutation testing.

Individuals in the JH HD presymptomatic protocol were required to have a study partner. Most individuals had their significant other serve as their study partner, which may have resulted in a bias in the number of individuals who communicated HD risk, the decision to pursue testing, and/or test results with their significant other, since study partners were required to attend pre-test counseling and disclosure sessions.

This study was not prospective, and the interview conducted many years after completing testing and the study protocol may have resulted in recall bias.

Some participants in the study were blood relatives of other participants in the study, and thus not all participants were independent. This could lead to family-specific effects. Additionally, individuals in this study were primarily Caucasian. Further research across different cultural backgrounds and ethnicities is needed to assess possible differences in communication patterns.