How should I approach genetic testing and counselling for families with a history of Duchenne Muscular Dystrophy?

Approaching genetic testing and counselling for families with a history of Duchenne Muscular Dystrophy (DMD) requires a structured, informed, and sensitive process. First, genetic counselling should be provided by healthcare professionals with appropriate training in genetics, ideally in a specialist genetic clinic setting, to ensure families understand the implications of testing, including the meaning of positive, negative, or uncertain results and the likely timescale for receiving results ¹.

Testing should ideally begin with an affected family member to identify the specific mutation in the dystrophin gene, which causes DMD, as this mutation finding guides subsequent predictive testing in relatives ¹. This approach maximizes the informativeness and clinical utility of the genetic test.

Pre-test counselling should include at least two sessions to discuss the potential risks, benefits, and limitations of genetic testing, including the possibility of variants of uncertain significance or no mutation being found, and the implications for the individual and their family ¹.

Carrier testing is particularly important for female relatives because DMD is an X-linked recessive disorder; identifying carriers can inform reproductive choices and early interventions [Frazer et al., 2013].

Families should be informed about the inheritance pattern, carrier probabilities, and options for prenatal or preimplantation genetic diagnosis if they are planning pregnancies, as well as the availability of ongoing support and review in specialist genetic services ¹ (Frazer et al., 2013).

Genetic counselling should also address the psychosocial impact of a DMD diagnosis or carrier status, providing opportunities for families to discuss concerns and receive tailored information about disease progression, management options, and implications for living independently [Frazer et al., 2013].

Referral pathways should be clear: primary care providers should refer families with a history suggestive of DMD to specialist genetic clinics for comprehensive assessment, testing, and counselling ¹.

In summary, the approach integrates thorough pre-test counselling, mutation identification in affected individuals, targeted carrier testing, and ongoing support, all delivered by trained genetics professionals to ensure informed decision-making and optimal family care.