Having a genetic counseling partner through the clinical trial and pre- and post- market stages of drug development is an asset to pharmaceutical companies as well as patients. As Alnylam Pharmaceuticals® worked its way through the complex process of gaining FDA approval for Givlaari™ (givosiran), the first-ever treatment for adults with the rare disease acute hepatic porphyria (AHP), they chose to partner with InformedDNA to support their efforts. From guiding patients through a remote screening process to providing pre- and post-test genetic counseling about the disease and treatment options, we worked hand-in-hand.
On average, it takes up to 15 years from symptom to onset for a patient to receive a correct diagnosis of AHP1. Misdiagnoses include conditions such as chronic pain syndrome, fibromyalgia, and inflammatory bowel disease (IBD).
Porphyria is a group of genetic conditions that can be very debilitating. This rare, painful, genetic disorder causes a buildup of toxic porphyrin molecules that form during the production of heme (which helps bind oxygen in the blood). This buildup causes acute and painful attacks, called porphyria attacks, that can lead to paralysis, respiratory failure, and even permanent neurological damage and death.
To manage diagnosis and treatment expectations, patients are being encouraged by Alnylam to work closely with their doctors and InformedDNA to determine if they are good candidates for genetic testing and therapy.
Patient Outreach and Education
By working with InformedDNA, Alnylam is able to implement criteria for free genetic counseling and meet the needs of patients who do — and do not — test positive for AHP. In addition, they are able to screen a much larger population of patients in ways that engage the patient community more quickly, in part due to the telemedicine model. The program results in time savings for patients, and both time and cost savings for Alnylam.
With access to board-certified genetic counselors who have deep clinical expertise, patients may be more comfortable participating in a pharma-sponsored program because they know they are getting a high level of impartial and personalized information.
Through pre-test counseling, InformedDNA is able to identify patients who are good candidates for genetic testing. Genetic counselors obtain a detailed medical and family history to assess whether a patient meets clinical criteria for further testing. If they do, counselors help patients understand next steps and what to expect. If they don’t, counselors help patients understand why and can suggest other avenues to pursue for further diagnostic help.
The InformedDNA telegenetic counseling model gives patients the experience they normally would get only by traveling to an academic medical center. No matter where they live or whether they are transportation-challenged, patients now have equal access to genetic counseling and clinical trials.
Post-test counseling involves explaining test results and what they mean for patients and families. How is the disease inherited? Who’s at risk? Which family members should be tested? Who might qualify for therapy or a clinical trial? What are the next steps if testing was negative? When appropriate, patients are referred back to their doctors for decision-making about treatment risks and limitations.
The Alnylam Act™ program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. Download the Alnylam Act patient brochure, or the brochure for healthcare professionals.
A brighter future for AHP patients
Prior to the approval of Givlaari, treatment options for AHP patients included only partial relief from the intense and unremitting pain of porphyria attacks. So, while there was still high value in getting to a diagnosis, there weren’t good treatment options. With the exciting development of an approved therapy, interest from patients and their families will likely grow, leading to earlier diagnosis and treatment — and brighter futures for everyone affected by AHP.
The benefits of genetics expertise for clinical trials
There are many ways InformedDNA helps pharmaceutical clinical trial sponsors and contract research organizations (CROs) successfully leverage genetics expertise for gene-based clinical trials:
- Help with outreach and education to patient communities, enlarging the pool of potential candidates.
- Deliver expert and empathetic genetic counseling and improve patient and provider access and satisfaction through an accessible telemedicine model.
- Serve as highly trained and trusted advisors to time-challenged physicians who welcome genetics expertise.
- Help accelerate the process from clinical trials to FDA approval by increasing patient identification, reducing time to complete clinical trial enrollment, improving patient engagement and clinical trial retention.
- Work with health plans to ensure the most appropriate gene therapy eligibility criteria.
 Bonkovsky HL et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec; 127(12):1233-41.