How to Talk about a DM1 Diagnosis

The Essentiality of Communication

For any disease with autosomal dominant inheritance, the distributed risks across a family pedigree are a harsh reality. Moreover, genetic anticipation—the inherited increase in expanded CTG tract length—represents an added risk in DM1, increasing impact upon generations beyond the affected individual. Despite the lack of an approved therapy, many of the multi-organ system sequelae of DM1 can be managed through early diagnosis and treatment. Thus, family communication, or lack of communication, around a diagnosis can easily impact diagnostic odyssey, access to adequate care, and both medical and non-medical decision-making. Any consideration of who to tell and when to tell family members about a DM1 diagnosis raises a host of interpersonal relationship and ethical questions.

Data on How to Talk about a DM1 Diagnosis

The issue of how families communicate regarding a DM diagnosis has received little attention to date—although it’s a difficult topic to search in PubMed, there appear to be few or no refereed publications. Although not an exact parallel, there has been considerable discussion of this issue in Huntington’s disease (where genetic testing often becomes a very personal issue), and lessons there may potentially inform families living with DM1.

Recruiting subjects from the New Zealand nationwide MD Prev study, Dr. Shelby Taylor (University of Melbourne and The Royal Melbourne Hospital) and colleagues examined family communication following a DM1 diagnosis (Taylor et al., 2019). They introduce the topic stating a disease-independent observation: “it is clear that most individuals at genetic risk do not receive sufficient information from their family members to be able to make an informed decision about accessing genetic testing.” The study involved a small cohort (17 patients, unaffected parents, and spouses), so sample size is a confounder to definitive conclusions—but the study provides important insights that can be built upon and ways to support familial communication around the diagnosis.

While communication patterns ran the gamut from open discussion through active avoidance of the diagnosis with family members, the majority of interviewees reported diagnosis disclosures at some level. Some extended family members, often female, took responsibility for communication even when an affected parent would not tell their own adult children (majority of males did not disclose their diagnosis to at-risk relatives). There was clear sentiment among interviewees that ‘to tell or not tell’ decisions altered family relationships, both positively and negatively—non-disclosures, among this cohort, invariably had negative connotations for family relationships.

Ensuring knowledge of the diagnosis for the purposes of medical or reproductive autonomy was a communication motivator detected by the research team. Extreme polarization could result when diagnosis non-disclosures were associated with birth of children with CDM. Minimization of potential disease consequences was a communication strategy that was reported by the majority of study participants. Finally, those who initially communicated information about a diagnosis assumed, indeed expected—often wrongly—that the information would be disseminated across the extended family.

Study Implications

Dr. Taylor and colleagues acknowledge the small cohort and heterogeneity of responses are consistent with an exploratory first study on the family communication topic in DM1. The research team concluded that reproductive considerations were a powerful motivator to communication of a DM1 diagnosis within families. The observed differences in communication patterns of males and females need to be recognized by medical practitioners. The team views genetic counselors as having a critical role in fostering communication among families; in this role, the counselors need to have greater awareness of the dynamic range of family communications around this diagnosis.

Finally, the authors' use of many exact quotations from interviews makes the publication feel a bit anecdotal, but this also enhances its power as a piece to both understand and to communicate the importance of communication to patients and family members.


Family communication following a diagnosis of myotonic dystrophy: To Tell or not to tell?
Taylor S, Rodrigues M, Poke G, Wake S, McEwen A.
J Genet Couns. 2019 Aug 5. doi: 10.1002/jgc4.1156. [Epub ahead of print]


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