Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess

Reassessing carrier status for dystrophinopathies

“…In their article in this issue, 12 Bogue and Ramchandren describe the reassessment of carrier status in a large kindred affected by DMD after the detection of a mutation in the proband via a modern molecular method. The c.8660-2A>T mutation, which disrupts the exon 59 splice acceptor site, was detected in the proband by a method that allows direct sequencing of all 79 exons and their flanking intronic sequences.…”

“…As Bogue and Ramchandren point out, 12 the “Duty to Reassess” is a topic of current discussion in the molecular genetics and genetic counseling fields. 18 While many genetics providers are in favor of recontacting patients, there are significant barriers to implementing a routine process to recontact patients with updates to their genetic testing results.…”

Helix: October 2016 issue

“…Finally, the medical and ethical mandates to offer carrier testing to women at risk of being carriers of a Duchenne muscular dystrophy mutation are presented by Bogue and Ramchandren. 12 The evolving landscape of improved genetic technologies and the “duty to reassess” and recontact family members is further discussed in the accompanying editorial by Newcomb and Flanigan. 13 …”