The document provides a detailed analysis of 245 responses from patients and patient representatives—primarily individuals affected by rare diseases such as Desmoid Tumors and Leiomyosarcoma—regarding proposed changes to the federal Common Rule, specifically relating to biospecimens. The overwhelming majority of respondents (97%) opposed proposals to expand the definition of "human subject" to include non-identified biospecimens, mandate broad consent for secondary research use, and restrict Institutional Review Board (IRB) waivers of consent. Respondents expressed particular concern that these changes would reduce the availability of biospecimens, delay research, and hinder scientific progress essential for rare disease communities, given the limited sample sizes and urgent need for continued research.
The sentiment against expanding the definition of "human subject" (90% opposed), requiring broad consent (85% opposed), and restricting IRB waivers (100% opposed) was consistent and strongly articulated, with patients highlighting the adverse research implications and potential negative impact on rare disease treatment options. While a minority supported increased consent measures—often referencing ethical considerations raised by historical cases such as Henrietta Lacks—the dominant view prioritized research access over additional regulation, arguing that the status quo sufficiently protects patients. The responses also noted limited engagement with other regulatory topics under review, such as single IRB use or data security, indicating the primary focus was on biospecimen policies and their life-or-death consequences for patients with rare diseases.
