A new post on The DNA Exchange observes that, while a genetic diagnosis may seem like the end of a journey for a clinician, it’s really the beginning of a lifelong journey for individuals and families. And, even more importantly, that journey isn’t entirely defined by clinical diagnoses or encounters.
The label Diagnostic Odyssey focuses on one medical aspect of a condition. Clinicians can take much-deserved professional satisfaction in having finally solved a long-standing mystery. But for many families, living with a genetic condition is not a temporally demarcated event and, above all, not only a medical experience. Patients will also still need to implement strategies and solutions to the social, educational, lifestyle, and psychological ramifications of the disorder. It is an ongoing journey, one that continues to unfold as patients age and develop new symptoms, family structures evolve over time, medical treatment advances, and sociocultural changes re-shape attitudes toward inclusivity and the availability of resources. A genetic condition, named or not, will continually present new challenges throughout the entire life of a patient.
Diagnoses bring much-needed answers to individuals, parents, and families, say genetic counselors Robert Resta, Jennifer A. Sullivan, Allyn McConkie-Rosell, but once the diagnosis is in hand, in many ways the real work has just begun.
Clinicians can and should be part of that work–but there are many other contributors, including patient support groups, educators, social workers, and extended family and friends. As genetics continues to integrate itself more fully into medicine and people’s everyday lives, genetics professionals are beginning to expand their vision of benefit and how they can be part of that larger community of helpers.
The PREPARE Study 