Table 3.

Detailed presentation of the interviewees’ situations.

Primary finding presence (PF+/PF-) and type of transmission	Type of SF and transmission	Parent interviewed	Standardized scales	Family situation	Interview summary	Medical benefits	CONCLUSION
PF+, de novo	SF1 cardiac (MYBPC3), paternal inheritance	Mother	Normal	Complex familial situation, parents in the process of separating	At TR, The result of the SF was put aside, as the parents were focused on the PF. However, the SF rapidly became a source of anxiety in the days that followed, as she had to undergo surgery. Therefore, the SF was perceived as very useful, even if cardiac follow-up was poorly received by the cardiology team who were not well prepared for the issue of SF. For the mother, SF became the equivalent of saving a life. The mother anticipated that she would be a carrier because of FH of sudden death, but the variant was finally identified in the father. It was described as a shock for him, he refused cardiac screening and transmission of the information to his family members.	Patient asymptomatic at T12.	Large divergence of experience and attitude between father and mother. Psychological difficulty for the father who carries and transmits the variant.
PF-	SF1 cardiac (DSG2), maternal inheritance	Mother	Normal	Complex familial situations, foster children	At TR, the mother mentioned deaths from heart disease on her side, so “I might as well get rid of anything that could worry me and take care of it right away”. At T6, tests revealed that the mother and maternal grandmother were carriers. Their cardiac ultrasound were normal. She feared that she had transmitted the disease to her other children. At T12, tests revealed that the sister, brother, and half-sister were also carriers; the results of 2 other children are pending. She had a defensive strategy: “If [the disease] had to develop, it would have already developed. So that’s what’s really reassuring”.	None symptomatic at T12. Intensive sport practice, no intention to reduce their sports practice.	Familial context complicated. A certain denial of results
PF+, de novo	SF1 cancer (BRCA2), maternal inheritance	Mother	All high level	Divorced	At TR, the mother talked more about the PF than the SF, but mentioned her mother’s family history of cancer and deaths. The adult patient only remembered the SF. At T6, tests revealed that the mother was a carrier and that SF was inherited from her paternal side, which revealed family secrets. Two prophylactic surgeries were quickly scheduled, with anxiety on their impact on femininity. At T12, the mother verbalized major complaints and psychological distress, as prophylactic surgery had been performed but not reconstruction, which had been deprogrammed because of COVID crisis. There was a very strong impact on quality of life. She also mentioned her stress regarding the risk of her other children.	None symptomatic at T12. Prevention complicated for patient because autistic. Screening for ovarian cancer first, then breast cancer later.	Psychological follow-up suggested because of great distress, particularly at T12. Accumulation of familial vulnerabilities before the results, and serious medical and psychological consequences of the prophylactic surgery for SF.
PF-	SF1 cancer (SHDB), maternal inheritance	Mother	All high level	Single mother living alone with her child in a precarious situation, family in native country.	At TR, the comprehension of SF was difficult. She recounted a difficult life story. At T6, tests revealed that the mother was a carrier. The blood test was impossible to perform on her daughter, and she was diagnosed with hypertension. The risk for family members has been transmitted but genetic testing was impossible in her native country. At T12, it was impossible to perform a CT scan on her daughter because of ASD. SF was seen as the equivalent of saving a life, and the mother was very grateful to France and its health and social system. Her social situation remained difficult.	Hypertension in mother with introduction of physical activity and diet for weight loss	Psychological follow-up proposed because of great distress, particularly in relation to the vulnerability of the social situation and the onset of symptoms in the mother. Positive scores on all scales.
PF+, de novo	SF1 Duchenne myopathy (DMD), maternal inheritance	Mother	STAI-Y-State at TR high level	No problem	At TR, a state of shock and depression were revealed, especially linked to the announcement of the PF, but also to the SF (“the icing on the cake” “the shitty thing”). The mother evoked a strong parental responsibility and the feeling of not being given a choice (“it would be criminal” not to look for the SF). At T6, the tests revealed that the mother was a carrier. The mother described a very troubled period after the announcement. She was worried to announce results to her mother, and decided to postpone the transmission of the information. The risk concerned her daughter for their offspring, but this could be anticipated and managed. At T12, the mother was suffering from depression following the death of her father and change in career plans. The variant was finally reclassified as benign: “The chapter is closed” “Return to a normal life”.	Very high psychological impact with no medical benefit since the variant has been reclassified as benign at T12.	Psychological follow-up necessary but already in place. Psychological difficulties unrelated to the study but significant additionnal anxiety led by the SF results.
PF-	SF1 cardiac (MYH7), not maternal inheritance	Mother	EPICES, CESD, and STAI-Y-State High level	Single mother. Family in native country.	At TR, the mother was very worried about the result: “Are we going to die?” and fatalistic: “That’s the way it is, we have to accept it”. At T6, she was still waiting for the cardiology appointment, still fatalistic but confident because she “believes in her God”. The mother did not carry the variant. At T12, the son’s cardiological check-up was normal. No analysis could be done in her family in her native country. The mother was exhausted by managing her son’s severe behavioral problems.	Patient asymptomatic at T12.	A situation of social and psychological vulnerability that has been contained over time thanks to religious beliefs.
PF+, de novo	SF1 hypercholesterolemia (LDLR), maternal inheritance	Mother	STAI-Y-State at T6 and T12 high level	No problem	At TR, there was a history of familial hypercholesterolemia: the mother and maternal grandfather were already being treated with statins, and so the mother was already in a situation of anticipation and prevention, which had justified her choice to learn about SF. The result of the SF search was quite enlightening as the mother understood the genetic origin of the hypercholesterolemia. At T6, the family was strongly mobilized to improve their diet thanks to the SF diagnosis. The mother was about to undergo breast cancer surgery: she was reassured by the absence of genetic predisposition to breast cancer, “not to have passed it on!” At T12, nothing new was mentioned; the mother was taking her treatment seriously.	Positive impact of SF result on family medical care, with increased physical activity and diet	Positive medical outcome with no major psychological consequences
PF-	SF1 hypercholesterolemia (LDLR), maternal inheritance + SF3 (CYP2C19)	Father	EPICES, CESD at TR, and STAI-Y-State at TR high-level	No problem	At TR, the father was very concerned about his child’s autism. The impact of SF was minimized: “cholesterol can be treated”; he didn’t feel concerned by the pharmacogenetic SF because his son wasn’t taking any treatment. At T6 and T12, the impact of SF was still minimized, and family information was not provided, as it was not important for the father.	Patient asymptomatic at T12.	No worries from the SF. The father preserved himself by not placing much emphasis on genetics, also for PF.
PF-	SF1 bleeding disorders (SERPIN C1), not maternal inheritance	Mother	EPICES high level	Single mother	At TR, The mother was surprised with the results because her son already had several surgeries with no problem. She was not worried because it was manageable. At T6, she was waiting for the specialized hematology consultation to find out more. The mother did not carry the variant. At T12, she had understood that there was a risk of hemorrhage. She has informed her family and in particular her daughter because she suffered from heavy menstrual periods.	Patient asymptomatic at T12.	Socially vulnerable but psychologically strong. No major psychological impact.
PF+, autosomal recessive	SF1 bleeding disorders (PROC), NA (not desired by parents)	Father	Normal	2 severely disabled children	At TR, this father felt strongly responsible for his 2 severely disabled children, with the aim of “living as long as possible to be able to look after them”. He made little mention of the SF. At T6, family information was given on each family lineage At T12, he no longer talked about the SF, the difficulty of everyday life was the main concern.	Patient asymptomatic at T12.	Social vulnerability, the heaviness of everyday life left little attention for the SF
PF-	SF1 cardiac (TNNI3), maternal inheritance	Mother	CESD, STAI-Y-State and STAI-Y-trait high level	Complicated family situation, 2 severely disabled children	At TR, the mother had high expectations on the actionability of the SF, as she had non-verbal autistic twins. Her concern was to organize cardio monitoring with 2 autistic children. At T6, tests revealed that she was a carrier, which added to her anxiety as she was already being monitored for other pathologies. At T12, she expressed disappointment, anger and illusion of risk control, which in the end did not lead to reassurance but to more questioning, doubt, and concern for her daughter, notably because the cardiologist refused to test her genetically because of her young age.	Patients and mother asymptomatic at T12. Critical of the proposed cardiological follow-up.	Psychological follow-up proposed in a context of personal psychological vulnerability and the heaviness of everyday life (autistic twins).
PF+, autosomal recessive	SF1 cardiac (FBN1 Marfan), maternal inheritance	Mother and Father	Normal	No problem	At TR, the father expressed concern, a desire to speed up the examinations, and anticipated that he would be a carrier. The mother relied on medical actionability to contain the anxiety aroused by the announcement of this SF. At T6, the parents were awaiting their genetic results. At T12, the analyses revealed that the mother was a carrier, the maternal family had been informed, but all tests (genetic and echocardiography) were suspended due to COVID-19 lockdown.	Asymptomatic at T12. “We continue to live as before”.	No social and psychological vulnerability. Anxiety was control

SF secondary finding, PF primary finding, TR time of result, T6 time at 6 months of result, T12 time at 12 months of result.