Genetic testing in AHP: supporting families to faster diagnosis (Alnylam Pharmaceuticals and Snow Companies)
Acute hepatic porphyria (AHP) is a family of rare genetic diseases that cause severe, potentially life-threatening attacks. The condition is commonly misdiagnosed, despite the existence of several diagnostic tests. Currently, the public knows very little about these diseases.
Patient advocacy groups have tasked themselves with educating stakeholders about the condition and the genetic aspects of the disease. However, many groups required support to educate patients and their families about the inherited aspect of the disease and the implications of this.
With its scientific expertise and its connections within the patient and caregiver community, Alnylam was well-positioned to create easy-to-use materials that would help advocacy groups provide this explanation to patients, potential patients, and their families.
Alnylam enlisted the help of Snow Companies, who collaborated with a steering committee composed of Patient Ambassadors, Patient Advocacy Leaders, and HCPs to develop an innovative Meeting in a Box. Content included an educational deck for presentations, a take-home patient brochure, a real patient story, and family mapping tools aimed at helping identify family members who might be at risk of AHP.
All the materials have been rolled out in Q1 2022 and are available for download online in English, French, German, Italian, and Spanish.