At the recent World Orphan Drug Congresses (WODC) in Europe and the United States, Worldwide Clinical Trials’ Derek Ansel, Vice President, Therapeutic Strategy Lead, Rare Disease, facilitated roundtable discussions to explore the operational challenges and ethical barriers surrounding genetic testing. While the agenda remained the same across both events, the conversations revealed key regional distinctions and global perspectives on how genetic testing, ethics, and operational challenges are addressed.
WODC Europe Key Discussion Points
Ethics and Consent in Genetic Testing: Balancing Patient Privacy
The conversation at WODC Europe centered heavily on ethical considerations around genomic and genetic data, particularly in obtaining patient consent for genetic testing. As regulatory frameworks like the General Data Protection Regulation (GDPR) have heightened the emphasis on data privacy and individual rights, Europe is leading the way in terms of privacy and data.
One topic that sparked this dialogue is the potential bankruptcy of 23andMe, a direct-to-consumer genetic testing company. Participants at the Europe roundtable raised concerns about the fate of patient data once private companies are acquired, the risks of data misuse, the lack of future consent, and the need for stringent safeguards.
Newborn Sequencing: Opportunities and Challenges
Another significant focus of the European discussion was newborn sequencing. While newborn screening is a public health initiative, newborn sequencing is a comprehensive analysis of a newborn’s genome shortly after birth. At the roundtable, participants discussed how they would be hypothetically more willing to partake in newborn sequencing for conditions where there are existing treatment options.
As newborn sequencing becomes more widespread, the roundtable mentioned several potential challenges:
- Determining whether to test for early on-set conditions, adult-onset, or those in between
- Managing the lifecycles of genetic data, including dispersion of that data for adult-onset conditions, and ensuring continuity in patient care
- Choosing where the data will be analyzed and stored, either at the county, state, or federal
- Handling the quantity of data from the results, which may cause staff and funding issues
WODC US Key Discussion Points
Operational Challenges in Genetic Testing
While WODC Europe concentrated on ethical and privacy considerations, the U.S. conversation was highly operationally focused. For instance, genetic nuances can be challenging to determine eligibility, especially for those providers who are not genetic experts. As more research into genetic testing is being done and various labs are selected, the baseline reference transcripts used to read the genetic data may differ.
When determining if a patient is eligible for a study, reference transcripts can vary, and the investigator may believe certain patients are eligible who are not. The results of these tests may also exclude patients from clinical trials that they may not otherwise be excluded from. From an operational standpoint, this challenge will significantly impact the types of tools and materials given to investigators to determine eligibility based on certain variants.
Additional operational barriers focused on laboratory selection, including technology and panel selection, and even leveraging genetic data to find, recruit, and educate patients and physicians. Several of the participants discussed the challenges and successes in using this method to recruit their clinical trials by targeting specific genetic variants.
In-Vitro Diagnostic Regulation and The FDA’s Final Rule
The WODC U.S. discussion also briefly mentioned the FDA’s Final Rule, which seems to run parallel with the EU’s In-Vitro Diagnostic Regulation (IVDR). This new regulation requires genetic testing labs to submit detailed evidence of their test’s accuracy and sensitivity. Due to the increased oversight, some participants felt that the regulation would lead to higher operational costs, causing concerns over the financial stability of these labs. Small labs, in particular, may now need to pivot to more profitable assays, which may reduce the availability of other diagnostic testing.
Collaborate with a Global Partner Recognized in Operational Excellence
The WODC roundtable discussions highlight the distinct regional perspectives around different aspects of genetic testing on a global scale. These insights underscore the importance of tailoring drug development programs to the unique challenges of each country while utilizing global resources to tackle challenges effectively. At Worldwide Clinical Trials, we are uniquely positioned to help navigate these complexities, bringing together ethical rigor and operational excellence to advance rare disease research, especially those diseases with a genetic etiology. To learn more about how we can support your rare disease studies, contact us today.
