Table V.

Qualitative Synthesis of Literature on Family Communication of Genetic Risk for HCA

FCGR Element	Category: Conceptual Definition
	Sub-Category: Conceptual Definition
	Citation	Supporting Literature
Influential Factors (Family Factors)	Established Family Dynamics Persist: Patterns and styles already present in a family in terms of communication, conduct towards each other, and relationships.
	Whyte et al. (2016)	Parents were expected to communicate with their own children. Older generations were expected to inform the extended family about their risk. When contact with family members was infrequent or limited to holidays, communication about risk did not occur because it was not part of the normal conversations that occurred at these family events.
	Haukkala et al. (2013)	One mother who told each of her children about their risk stated that their family always had a very open discussion style.
	Geelen et al. (2011b)	One individual felt that having less severe disease than other family members isolated her from her family, however upon further reflection she concluded that the isolation began years before due to a parent’s early death and the resulting change in family dynamics.
	Burns et al. (2016)	10% of participants cited previous breakdowns in family relationships as the reason for not communicating risk.
	Family Contact & Closeness: The influence that the family structure, quality of relationships within the family, amount of contact between family members, geographical proximity, and emotional closeness have on the communication of HCA risk.
	Burns et al. (2016)	Close relationships with family members made it easier to communicate risk. Half of those who did not communicate to a FDR cited lack of existing contact as the reason for not communicating.
	Smart (2010)	Reasons for lack of contact with family members ranged from mundane to complex or sensitive. Some probands simply did not know how to get in touch with relatives.
	Batte et al. (2015), Ormondroyd et al. (2014), Smart (2010)	Resentment, estrangement, and poor relationships with family members were barriers to communication of risk.
	Whyte et al. (2016)	Large family sizes, particularly in the older generation, resulted in loss of contact with the numerous branches of family over time and a lack of awareness about which family members had to be told about their HCA risk.
	Batte et al. (2015)	Lack of closeness and lack of contact with relatives were not very important barriers to communication (although they ranked as the most important barrier among several potential barriers). Family functioning and cohesiveness had little influence on the occurrence of communication. Women were more likely to describe communication barriers related to family contact and closeness than men.
	Geelen et al. (2011b)	In one family, questionable paternity lessened the perception of HCA risk for siblings, creating emotional distance.
	Ladd (2010)	Some parents from 14 different geographically disparate families, with no prior contact, eventually developed relationships based on shared paternity and shared disease among their children who were related only by a sperm donor.
	Ormondroyd et al. (2014), Smart (2010)	Geographically dispersed families and complex family relationships increased uncertainty about telling relatives about HCA risk.
	Cohen et al. (2012)	Geographic and emotional distance contributed to the unwillingness of one family member to communicate about HCA risk.
	Milestones: Normal life happenings such as marriage, pregnancy, or childbirth that influence HCA risk communication.
	Geelen et al. (2011b)	Pregnancy, childbirth, increasing severity of physical complaints potentially related to HCA, or death of family members raised the issue of family risk for some families.
	Haukkala et al. (2013)	Birth of a grandchild motivated communication in one family.
Influential Factors (Disease Factors)	Understanding of Disease: An individual’s measured or perceived understanding or confidence in their knowledge of various aspects of their disease and the disease risk for others (e.g. inheritance, genetic tests, perception of risk).
	Batte et al. (2015)	Lower comprehension of HCA was weakly associated with more importance placed on barriers to communication including not thinking family members were at risk (r=−0.19, p=.03), not knowing what to say to family members about HCA and their risk (r=−.15, p=.02), or not knowing how to explain medical genetics (r=−.16, p=.01).
	Burns et al. (2016)	Not knowing which relatives were at risk was a barrier to communication for 12% of the participants and was significantly more common for those experiencing anxiety (50% vs. 13% without anxiety, p=.025) and depression (67% vs. 21% of those without depression, p=.028).
	Smart (2010), Vavolizza et al. (2015)	Participants did not know which family members were at risk and how to explain complexities of the disease including the genetic component.
	Batte et al. (2015)	Perceived lack of risk in relatives was not considered an important barrier of communication nor a statistically significant predictor of communication (β=−.05, p=.97).
	Haukkala et al. (2013)	One proband felt they didn’t know enough about the disease to communicate risk to family members.
	Whyte et al. (2016)	Participants (incorrectly) perceived that family members who did not have children would not require testing for HCA and that having a mutation that caused HCA was no different than any other genetically variable characteristic.
	Batte et al. (2015)	Increased comprehension of HCA inheritance patterns was observed among individuals who told all of their siblings and children compared to those who only told some siblings and children (OR=3.57, p=.03). Higher levels of comprehension of HCA inheritance patterns were also associated with assigning more importance to informing family members of their risk (r=.29, p=.0001) and suggesting they get tested (r=.22, p=.003).
	Smart (2010)	Some individuals believed they had no problem knowing which family members to contact and what to say.
	Burns et al. (2016)	71% of participants believed a good understanding of what their genetic test results meant made it easier to communicate.
	Mangset et al. (2014)	Perception of others’ risks, particularly children, is not completely rational and often involves emotional components.
	Ormondroyd et al. (2014)	Non-rational risk perception for families experiencing death from HCA, who use various mechanisms to justify their perceptions of a lower risk of disease for themselves and their children.
	Disease Experience: An individual’s experience with the disease, including how they came to be diagnosed or aware of their risk, symptoms, coping with the disease, and test results.
	Geelen et al. (2011b), Ormondroyd et al. (2014)	Some grew up knowing about the HCA in their family and described an evolving understanding of their risk.
	Geelen et al. (2011b)	Some knew of heart issues in family members, but not that the heart issues were familial until genetic testing was done.
	Haukkala et al. (2013)	For some, learning about their HCA changed their perception of their family history and explained symptoms in family members that had never previously been linked to a genetic heart problem.
	Geelen et al. (2011b)	The HCA was a surprise for some who were the first in their family to be diagnosed and had no evident family history.
	Ladd (2010)	In one case of a child born through a sperm donor, the family learned about the HCA risk through the sperm bank.
	Haukkala et al. (2013)	All participants learned about their risk incidentally through participation in a biobank research study.
	Whyte et al. (2016)	All participants diagnosed with an HCA due to a family member’s diagnosis, 66% of whom had a sibling die from an HCA and 33% who had a relative experience a cardiac event.
	Batte et al. (2015)	Disease severity of the proband, measured by ICD status, was not related to communication (OR=.89, p=.65).
	Geelen et al. (2011a)	Disease severity within the whole family was not indicative of communication to children.
	Haukkala et al. (2013)	For three individuals discovering their HCA incidentally through biobank participation, disease severity and risk information took on more personal relevance because their symptoms could now be explained by the diagnosis.
		Three individuals who lacked symptoms were less concerned about the disease and thought that the absence of symptoms in their family made it easier to communicate risk.
	Geelen et al. (2011b)	For one individual, personal difficulties dealing with the HCA (symptoms and reactions of those around her) were more concerning than risk to family members.
	Geelen et al. (2011a)	Parents of children affected with HCA were concerned with the physical health of their child more than the genetic nature of HCA and the possibility of inheritance.
		In situations where a couple was faced with communicating risk to children, the parent who had HCA or was at risk for HCA generally took the lead in making decisions about how to manage the child’s risk.
	Ormondroyd et al. (2014)	Some families minimized risk despite death from HCA in family members.
	Smart (2010)	For some, risk of sudden death (especially in children) motivated communication but also created guilt and anxiety.
	Batte et al. (2015)	Regardless of coping style (measured by the Brief COPE), coping did not have an effect on communication (OR range .66–1.00, all p>.10) nor was difficulty coping with one’s disease considered a very important barrier to communication.
	Batte et al. (2015), Burns et al. (2016)	Different genetic test results (positive, negative, variants of unknown significance) were not found to affect communication occurrence to relatives (OR=1.15, p=.74).
Influential Factors (Individual Factors)	Reasons to Communicate Risk: An individual’s conscious reasons to communicate risk and included three distinct subcategories; moral and ethical conviction; desire to inform, encourage, and help; and reciprocal communication.
	Moral & Ethical Conviction: Feelings of responsibility, duty, or obligation to communicate risk to various relatives.
	Batte et al. (2015), Burns et al. (2016), Geelen et al. (2011b), Mangset et al. (2014), Ormondroyd et al. (2014), Vavolizza et al. (2015), Whyte et al. (2016)	Participants in seven studies were motivated to communicate about genetic risk based on feeling a responsibility, duty, or obligation to communicate about the genetic risk for HCA to family members.
	Geelen et al. (2011b)	Responsibility was generally focused toward relatives and children, but responsibility to follow healthcare provider’s directions was also described.
	Geelen et al. (2011b), Mangset et al. (2014)	Some participants envisioned scenarios where a child or relative died due to not knowing their risk.
	Vavolizza et al. (2015)	One participant described communication of HCA as something personal between family members and not an obligation. 27 participants (54%) did not bring up obligation or duty at all as a reason to communicate however explanations of why they did not are unknown.
	Ormondroyd et al. (2014), Vavolizza et al. (2015)	Belief that relatives have a right to know about their HCA risk was emphasized as a reason for communication.
	Ladd (2010)	In one family connected only by a sperm donor, one mother contemplated if these now connected individuals should have an obligation to share information with each other.
	(Mangset et al. (2014)	Moral and ethical convictions were often accompanied by other feelings including anger, guilt, and doubts, making communication difficult.
	Altruism: Desire to inform, encourage, and help as reasons to communicate.
	Batte et al. (2015), Burns et al. (2016), Haukkala et al. (2013), Mangset et al. (2014), Ormondroyd et al. (2014), Vavolizza et al. (2015)	Probands often communicated about genetic risk because they believed the information would be useful to their relative’s health and medical decision making and had the potential to save a life.
	Burns et al. (2016), Haukkala et al. (2013), Mangset et al, (2014), Vavolizza et al. (2015)	Altruism was particularly strong when considering children or future generations.
	Batte et al. (2015), Burns et al. (2016)	Some were motivated to communicate to encourage their relatives to get genetic testing.
	Burns et al. (2016)	Some felt that their relatives would want this information and would want to get tested.
	Ormondroyd et al. (2014), Vavolizza et al. (2015)	Some wanted to provide information that might be useful for the future, if HCA symptoms developed.
	Reciprocal Communication: The expectation that communication of risk to relatives would have some benefit to the proband.
	Batte et al. (2015)	Some participants communicated with relatives to get emotional support and advice on their own medical treatment.
	Ladd (2010)	One respondent communicated her child’s test results back to the sperm bank to add to the genetic information of the entire biologic (through sperm donor) family and was hopeful others would do the same. She recognized that reciprocal communication may not be possible and respected others’ desire for privacy.
	Psychological Functioning: General or disease related anxiety, depression, or stress that affects or is associated with communication about genetic risk.
	Haukkala et al. (2013)	The need to communicate risk to relatives and children was an additional stress of an HCA diagnosis.
	Burns et al. (2016)	Individuals with clinical anxiety, compared to those without, were more likely to report not knowing which family members were at risk (50% vs. 13% without anxiety, p=.025), emotional difficulties sharing genetic risk information (43% vs. 6% without anxiety, p=.018), not wanting to upset relatives (43% vs. 6% without anxiety, p=.018), and feeling guilty or anxious about communication of risk (36% vs. 0% without anxiety, p=.009). Depression was associated with increased feelings of guilt or anxiety about communicating risk (67% vs. 4% without depression, p=.001), and difficulty knowing who in the family was at risk (67% vs. 21% without depression, p=.028).
	Smart (2010)	Anxiety was related to the potential for severe and lethal symptoms of HCA, especially for children.
	Haukkala et al. (2013)	One individual described feeling scared to communicate risk and only doing so because of births in the family. Anxiety was also reported by some individuals due to having to repeat risk information several times to several relatives.
	Mangset et al. (2014)	One parent described anger, guilt, and vulnerability about communicating risk and felt the entire situation was awful.
	Mangset et al. (2014), Smart (2010)	Anxiety was often accompanied by guilt of nondisclosure or just guilt in general.
	Smart (2010), Vavolizza et al. (2015)	Participants worried that communication would cause stress and negative emotions for themselves or their relatives due to the bad news they would share.
	Doubts, Ambivalence, & Reluctance: The view that negative consequences of risk communication may outweigh the positive, leading to hesitation or blocking communication about genetic risk to relatives.
	Geelen et al. (2011b), Ormondroyd et al. (2014), Smart (2010)	Participants reported being uneasy and having doubts or ambivalence about burdening family with information they would not want to hear and wondered what good it would do given that there was no way to prevent the disease.
	Burns et al. (2016), Smart (2010), Vavolizza et al. (2015)	Some participants were reluctant to communicate because of the potential to upset family members with what was perceived as bad news.
	Burns et al. (2016)	Reluctance especially when the proband was experiencing generalized anxiety.
	Cohen et al. (2012	Described three clinical scenarios in which ambivalence was evident about disclosing genetic risk to family members and children despite apparently obvious benefits.
	Smart (2010)	Doubts and concerns were complicated by conflicting advice or pressure from healthcare providers and different family members about who to tell about the risk.
	Mangset et al. (2014), Ormondroyd et al. (2014)	Feelings of doubt or ambivalence about the value of HCA risk communication was accompanied by a sense of obligation to communicate, creating a difficult dilemma.
	Burns et al. (2016)	Reluctance to communicate because of a perception that family members may not care about the information.
	Batte et al. (2015)	Thinking relatives would not care and not wanting to upset relatives were rated as ‘not very important’ barriers to communication.
	Whyte et al. (2016)	Some felt relatives would not be interested nor proactive if given the information, particularly in regards to relatives with whom they had no contact.
	Difficulty with the Conversation: Not knowing what to say or how to start a conversation about risk for HCA.
	Smart (2010)	Some participants described simply not knowing how to even start a conversation about being at risk for sudden death and the accompanying activity restrictions.
	Batte et al. (2015)	Not knowing what to say in a conversation about HCA risk was not an important barrier to communication.
	Gender Influence: Differences in communication styles that are thought to be related to gender.
	Batte et al. (2015)	For the 383 participants who completed at least some of this study, there was no association between gender and communication (X2=3.01, p=.08). For the 183 who completed the entire study, females were more than twice as likely than males to communicate with all their siblings and. children about HCA risk (OR=2.46, p=.03). Women gave slightly higher importance to suggesting relatives get tested (t (373)=2.15, p=.03) and receiving emotional support (t (367)=3.05, p=.002) as motivators for communication. Women were also more likely than men to state that not being in contact (t (255)=2.55, p=.01) or not being close to relatives (t (249)=2.33, p=.02) were more important barriers to communication.
	Conflicting Interests for Children: Conflict between the need to protect children from physical, psychological, or social burdens related to HCA and HCA risk, now and in the future.
	Smart (2010)	The risk of sudden death from HCA in children could be a motivator to communicate risk to family members, but it could also limit communication, particularly when other barriers were present. Concern for other children in the extended family was given as a reason to communicate.
	Cohen et al. (2012), Mangset et al. (2014), Vavolizza et al. (2015)	The desire to protect children from physical, psychological, and social burdens was a major concern of parents of children with or at risk for HCA.
	Cohen et al. (2012)	Parents acted as guardians of the health and welfare of their children and feared that communication of risk information would be traumatic or disruptive to their child’s life.
	Mangset et al. (2014)	Parents concerned with protecting their children from harm while promoting their future autonomy. Although parents were aware that despite the risk for psychological harm to children, they also were aware of the benefits of sharing the risk information with their children.
	Vavolizza et al. (2015).	Parents had difficulty balancing being open with their children and not scaring them. Parents based the extent of their communication, details shared, and terminology on their child’s age.
	Geelen et al. (2011a)	Some parents purposely pushed the HCA and its genetic nature into the background to not burden children and facilitate the child’s future decision making regarding testing.
	Haukkala et al. (2013), Mangset et al. (2014)	Perception of HCA risk in children had a substantial emotional component and brought forth a multitude of conflicting emotions including anger, anxiety, responsibility, vulnerability for criticism, guilt, trust, and distrust.
	Desire to Protect Elderly: The need to protect elderly relatives, generally parents, from psychological burdens related to HCA (e.g. guilt of passing on bad gene, worry, stigma).
	Ormondroyd et al. (2014), Smart (2010)	Participants described concerns about involving elderly parents in communication and screening of HCA largely to protect them from worry.
	Smart (2010)	Reasons for not telling elderly parents about HCA risk were not thinking the diagnosis would be beneficial at later stages of life, feeling they were at lower risk due to their advanced age, and a desire to protect from parents from the potential guilt of passing on the disease-causing gene.
	Whyte et al. (2016)	Parents were expected to take a major role in communicate HCA risk to the extended family.
Communication	Delivery: Various modalities, styles, tones, or approaches used to communicate HCA risk to relatives.
	Burns et al. (2016) Strategies	11% of participants learned about their own risk from family members or a family letter. 89% of participants used multiple methods to communicate risk to different family members, most commonly a combination of in-person and phone communication.
	Haukkala et al. (2013), Ormondroyd et al. (2014)	Clinicians provided a family letter to help probands inform their relatives. However, this did not seem to be a uniform practice.
	Burns et al. (2016) Geelen et al. (2011b)	One individual (in each study) composed their own letter to communicate HCA risk to family members, sometimes along with communicating in person.
	Vavolizza et al. (2015).	Email was used to communicate risk to relatives.
	Whyte et al. (2016)	Participants unanimously preferred to give and receive HCA risk information in-person rather than using letters. Participants made use of Facebook to keep in contact with cousins and also communicate about HCA risk.
	Geelen et al. (2011b)	One participant who described his family as distant, informed relatives of their risk by phone then had no further discussion with them about the risk. Another participant held a somewhat formal family meeting, inviting all her siblings and their spouses, providing handouts and employing a straightforward and frank approach to informing all her siblings about their risk at the same time. Other, less formal, approaches included discussing HCA risk during normal family life such as during a walk, regular phone calls, or family dinners. Discussions about the health of affected family members often led to discussion of HCA risk. In some families, relatives visited the doctor together and openly discussed the HCA and its risks. While one proband described urgency to communicate with family members and immediately disseminated family letters. However, she felt that her newly informed relatives did not have the same sense of urgency and that copies of the letters were given out much more casually to other at-risk relatives.
	Ladd (2010)	In the case where a sperm donor was used, all communication was written, anonymized, and always between the individual and the sperm bank; however, through a website called the Donor Sibling Registry, some parents of different children from the same sperm donor connected and shared information.
	Smart (2010)	Family members used persuasion and pressure to motivate others to share HCA risk information for the interest of the larger family, particularly the younger generation.
	Mangset et al. (2014)	Families expected the assistance of healthcare professionals in communicating information to their relatives.
	Ormondroyd et al. (2014)	Participants felt that follow up for recently informed relatives from a healthcare provider may reinforce the communication started by the proband.
	Cohen et al. (2012)	Approaching communication of HCA risk as a process rather than a single event was supported by genetic professionals assisting parents with communication to their children about HCA risk.
	Content: Specific content of communications about HCA risk.
	Vavolizza et al. (2015)	Variation in how much and what information was shared with relatives.
	Smart (2010)	Those who communicated risk shared details about the HCA, genetic tests, and the process of cascade screening.
	Geelen et al. (2011b)	One family letter included an explanation of the situation, asked family members to spread the news, and offered to help anyone who wanted to know more.
	Ormondroyd et al. (2014)	An example of a letter provided by clinicians to give to family members contained brief information about the HCA and the risk to relatives.
	Vavolizza et al., 2015, p. 612).	One individual included a paragraph in an email communication about her child’s diagnosis that said “unfortunately this means that it’s in our genetic makeup… you might consider getting tested”
	Ladd (2010)	Initial communication from the sperm bank described the situation in which HCM had been discovered in a child related to her children through a mutual sperm donor, what HCM was, and advised seeking specific testing as soon as possible. Subsequent communications urged genetic testing and gave details of genetic test results from other family members.
	Whyte et al. (2016)	Almost half of the participants described talking about famous athletes with the HCA to converse more easily about the risk.
Communication Occurence	Batte et al. (2015)	72% of participants said they communicated with all of their siblings and children, while 23% reported communicating with at least one but not all siblings and children, and about 5% communicated with no one.
	Burns (2016)	100% of their participants said they had told at least one FDR, 73% said they had told at least one SDR, and 60% said they had told at least one TDR.
	Haukkala et al. (2013)	33 out of 35 children (94%) of affected parents had been told about their LQTS risk; the two who were not told were reported to be quite young.
	Geelen et al. (2011b)	When a child was the first diagnosed in the family, the parents reported communicating risk information to all of the mother’s siblings and parents, since it was determined their child inherited the risk from the mother.
	Ormondroyd et al. (2014), p. 92	“most participants know of relatives who have not been told”.
	Burns et al. (2016)	10% of their sample said at least one FDR had not been informed of their risk.
	Ladd (2010)	In the case where at-risk biological siblings were related through a sperm donor, the sperm bank communicated the risk to all 24 of the known offspring’s families, however there was a good possibility that the sperm bank was not aware of all the children born to this specific sperm donor.
Outcomes of Communication	Clinical Screening & Genetic Testing: Reported uptake of clinical care including screening, and genetic testing because of communication of HCA risk.
	Burns et al. (2016)	Uptake of genetic testing was 60% for FDR and 50% for SDRs and TDRs. Average time from proband diagnosis to genetic testing of other at-risk relatives was six months.
	Cohen et al. (2012)	One teen was tested and diagnosed with the same genetic mutation as her deceased sister.
	Ladd (2010)	The mother of two children born from a sperm donor had both children clinically tested and later genetically tested.
	Haukkala et al. (2013)	Of the 33 children who were told about their risk, 19 were tested for disease, four chose not to be tested, four planned to test in the future, and for six it was not known what the children did with the information.
	Geelen et al. (2011a)	In one family, none of the four brothers nor the parents decided to get genetic testing after they were told about their risk by the mother of an affected child.
	Family Functioning: Describes positive and negative changes in family dynamics as a result of communication of HCA risk.
	Vavolizza et al. (2015)	Some families became closer, with communication and sharing of HCA risk information forming a bond between relatives who had not been close before.
	Whyte et al. (2016)	The HCA strengthened the already close bond shared by families.
	Geelen et al. (2011b)	One individual reported that it was nice to get in touch and catch up with relatives with whom they had been out of touch with by communicating HCA risk.
	Ladd (2010)	Communication about HCA risk connected people who previously had no reason to communicate and these connections were described as positive and cooperative.
	Vavolizza et al. (2015)	Some participants were frustrated and felt isolated from their family when family members chose to not seek testing.
	Ormondroyd et al. (2014)	Some participants believed that a healthcare provider might be helpful at building bridges between estranged relatives by being more directly involved in the communication process.
	Geelen et al. (2011b)	In one family, conflicts persisted although they were not attributed directly to the genetic risk communication. Despite variations in how individuals handled the HCA risk communication, overall family life stayed relatively normal and on good terms when communication occurred.
	Responsibility Completed: Discharging of responsibility for disease risk after communication is done.
	Geelen et al. (2011b), p. 1755	One participant’s statement, “Now its up to them” reflects the feeling that by communicating to relatives they felt their duty to tell about the risk was complete and that action or inaction by the relatives was no longer their responsibility or concern.
	Mangset et al. (2014)	One participant did not even want to know what their relatives chose to do with the risk information.
	Ladd (2010)	Not wanting to pressure others was described in one case where a mother urged others to contact a particular cardiologist but left it at that to purposely avoid pressuring others decisions.
	Relative’s Lack of Interest or Denial: Describes relatives whose response to learning their risk was apparent or real denial or lack of interest.
	Whyte et al. (2016)	Family member reactions included being uninterested in the HCA risk information.
	Ormondroyd et al. (2014)	Some participants felt their family members had not taken the risk information seriously enough.
	Geelen et al. (2011b)	One participant felt that none of her siblings or parents seemed very interested in the risk information. In a different family, a seemingly healthy relative was not very concerned about the risk, believing there was no way that all the siblings would have the HCA.
	Haukkala et al. (2013) p. 249	Upon communicating about the disease risk to her adult children, one mother reported simply that her children thought “it was not a topic for them”.
	Vavolizza et al., 2015	One participant attributed their relative’s decision to not pursue testing to stubbornness. One participant who had sent an email to her entire family did not receive a single response from any family members. Another family had one family member who appeared to ignore the communication.
	Ladd (2010)	Felt denial upon learning that her children were at risk for HCM since they appeared healthy and athletic; however, this denial was not sustained because she went on to have her children tested.
	Parental Concern: Concerns or worry related to a non-adult child’s health, coping, or response to being aware of their disease or disease risk.
	Geelen et al. (2011b)	Concern about children preoccupied some parents and diminished their concerns about communicating with other relatives.
	Haukkala et al. (2013)	One participant described feeling sad about her daughter’s diagnosis because her granddaughter now had to be checked.
	Cohen et al. (2012)	Parents felt that the results of positive genetic tests would be difficult for their adolescent children to hear. In one case, parents of a diagnosed teenager wanted more invasive and protective measures for their child since they felt she wasn’t compliant with the activity restrictions given after her diagnosis.
	Ormondroyd et al. (2014)	One mother regretted having her child tested due to the child’s extremely poor coping with the disease, despite having felt that it was very logical to get her child tested initially.
	Emotional Reaction: Emotions of the relative that occurred in response to the communication of HCA risk.
	Haukkala et al. (2013)	24/33 (73%) adult children told about their risk were reportedly ‘satisfied’ with receiving communication that they were at risk for HCA, however there were no details reported about what being satisfied entailed.
	Vavolizza et al. (2015)	One relative expressed anger and fear about learning about the HCA risk and wished they had never known the information.
	Ormondroyd et al. (2014)	One child took the information very hard, constantly thinking he was going to die, making his parents question their decision to let him know about his risk, However, two years later the child and his parents had adjusted. Participants were unanimously appreciative of having been told by a relative about their risk.
	Geelen et al. (2011b)	One family was shocked to learn about the HCA risk in their family.
	Ladd (2010)	The mother of an affected child conceived from a sperm donor imagined what a terrible shock it was for the donor to learn about his own risk, the risk to his children, and the risk he unknowingly passed to many others. Described going from absolute joy to deep devastation upon learning about her child’s HCA risk.
	Discontinuation of the Cascade: The breakdown in communication that occurs when relatives who learn about HCA risk fail to pass on risk information to subsequent relatives.
	Ormondroyd et al. (2014)	Some participants believed the HCA risk they communicated to relatives had not been passed on to adult or minor children.
	Haukkala et al. (2013)	One participant described a relative who was against passing on the HCA risk information to their children but the reasons for this discontinuation of communication were not known.
	Geelen et al. (2011b)	No outright refusal to continue communication but a perceived lack of immediacy in continuation HCA risk information to children or siblings.
	Haukkala et al. (2013), Vavolizza et al. (2015)	Situations where relatives refused to pass on information to their own children were described as extremely difficult and frustrating for probands.
	Difficulty with Relatives’ Reactions: Frustration, disappointment, anger, or disagreement with how relatives responded to communication of HCA risk.
	Geelen et al. (2011a; 2011b)	Despite respecting relatives’ inactions and remaining on good terms, two participants reported disappointment and difficulty with relatives’ lack of response.
	Haukkala et al. (2013), Vavolizza et al. (2015), Whyte et al. (2016)	Probands were hurt by relatives’ lack of response, frustrated by those who did not want to get testing, or angry or frustrated when relatives declined to pass information on to other family members