NORTH that lives rare, lives stronger – Los Angeles | iHuman

As part of the Orphanage Team’s ongoing ethnographic immersion at pharmaceutical and rare disease conferences, Matthew Hanchard attended the US National Organization for Rare Disorders (NORD).Living sparsely, living stronger‘ patient and family forum in the Universal City Hilton Hotel, just outside of Los Angeles (CA) in mid-June 2024. As a major national event hosted by the world’s largest rare disease umbrella organization, it brought together patients (and members of family), patient organizations (POs) and industry across the US. It also attracted a sizeable contingent of medical personnel and genetic counselors. As such, it provided an excellent opportunity for networking and helped recruit interviewees for a current sub-project on ‘sociotechnical imaginaries of access to orphan drugs in the US’ – as a complementary activity in the US to our recently completed work examining access to ‘patient “orphan medicines in the UK (from the patients’ perspective)”.

The NORD event itself was different from many of those organized by Terrapin, such as the World Orphan Drug Congress or the World EPA Congress. Where the latter primarily offer business-oriented discussions (for industry and POs), the NORD event was much more patient-focused, giving it a more informal tone. Attendees swapped corporate attire for event-branded t-shirts, children ran free in dedicated play areas, and talks were interspersed with entertainment such as a performance by members of the Rollettes dance troupe. None of this distracted from the depth or seriousness of the discussion; if anything, having patients and family members (the actual affected people) there in the room and interacting as equals, rather than medicalized subjects or quantified as graphed data endpoints, brought to the fore a sense of both of necessity of immediacy and substantiation. .

The discussions were clearly split along two parallel tracks. One track focused on advances in genetic testing and newborn screening, including some of the challenges facing the US. For example, Elisa Seeger (Founder of the ALD Alliance) noted that although there have been pre-screening tests since the passage of the Newborn Screening Saves Lives Act and with 37 rare diseases included in the Recommended Uniform Screening Panel (RUSP), “…in 2019, the RUSP list expired…”. In turn, she adds that by “…2024 none (UNITED STATES OF AMERICA) the state reviews all 37 RUSP conditions‘. Here, the discussion turned to evaluating the value of opt-in versus mandatory screening models and the resource allocations that both entail for national healthcare budgets and payers.

Rather than politics, other speakers turned to discuss broader cultural practices in medicine as a normal science and its impact on innovation. Zhanzi (“Mike”) Hu (co-founder of the non-profit genomics screening organization GUARDIAN), for example, argued that currently anything outside of “(clinical mass) spectronomy a no-no from the beginning..’ for diagnostics, i.e. “… we are at the limits of our current technologies‘.

Meanwhile, the other track focused on the patient experience of living with a rare disease, what it might mean for sexual and reproductive health, and how to find purpose post-diagnosis. A line of thought that resonated with many, including speakers such as Amanda Marinoff (a pediatric oncologist and clinical instructor at the University of California, San Francisco), who urged the importance of recognizing the role of parents in “being (their) the child’s main advocate (adding this) we learn by having tissues and samples, (who asks for this) patients give generously by participating (in processes and records)”

The two components worked well in counterpoint and were clearly handled with great care, tact and experience. The structure was also reflected in the choice of keynote speakers, with director Miles Levin’s “Under the Lights” opening keynote on community, fulfillment and building future narratives around hope being followed by two policy-focused panel discussions. One on health equity looked at geography, race and linguistics to show deep inequities at play with the treatments received by more than 30 million rare disease patients in the US. The other focused on overcoming insurance barriers to access to drugs for rare diseases (including orphan drugs), a topic that members of our team recently published (see Hanchard, 2024), with some helpful tips for patients to -navigate the complexity of the various federal health states. jurisdictions.

Meanwhile, looking ahead, Professor Stanley Nelson (Human Genetics and Psychiatry, UCLA) has mapped the journey from genomic testing in the early 1960s through the emergence of a well-connected network of organizations working on genomics to the 2000s. he moved to protein-coding genomes and exomes in the late 2000s, “able to find 85% of all disease-causing mutations” and note that “RNA (testing) is now augmenting routine (clinical) testing” and will likely continue to do so as the primary direction of travel.

Curiously, outside the main seminar rooms, stalls were seen lining the hallways forming a mix of gene therapies. Also next in the sponsor list is Chiesi an Italian B corporation) appearing as a Silver sponsor alongside Novartis and the usual west coast “big pharma” companies being listed as Gold sponsors (Amgen, Biogen, Takeda). A small indication, perhaps, of a burgeoning shift to a mixed market economy of big players in the rare disease space, with a greater focus on cell and gene therapies (CGTs) than traditional pharmaceuticals. The latter is a topic of another sub-project of our team, which examines “a mixed economy of innovation in drug development for rare diseases”. Interestingly, representatives from CGT manufacturers seemed much more approachable than those from traditional pharmaceutical firms and at other conferences; their booths are occupied by researchers and advocates more than the consultants and/or business development managers encountered at the World Orphan Drug and EPA congresses.

Overall, the event was a very positive experience, with Tiffany and Janus from NORD doing a wonderful job of moderating the talks and keeping the session on time and man-rack. Also, less onus was placed on sales and more on facilitating smaller POs and patients/parents to work together on common goals – primarily getting earlier diagnoses and increasing awareness of rarity among clinicians and brokering access to relevant treatments for US patients. As a final thought, and very much in line with our own work on the Social Life of Patient Stories (SLoPS) project, the key takeaway for patients came from Elisa, who urged people to “tell your story…(because) it is so powerful“.