BBJ Op/Ed: How will we tackle barriers to rare disease care?

Mar 21, 2023

By Kendalle Burlin O'Connell and Dennis Huang

This is an excerpt from an op/ed co-authored by MassBio CEO and President Kendalle Burlin O’Connell and Dennis Huang, chief technical operations officer and executive vice president of gene therapy operations at Ultragenyx, in the Boston Business Journal on March 21, 2023.

Since its passage 15 years ago, the Massachusetts Life Sciences initiative has propelled the commonwealth to become an international leader in biotech R&D and manufacturing while creating more than 50,000 jobs across the sector and the state.

But true leadership is not just defined by counting jobs and laboratories. Massachusetts must effectively leverage these investments to the benefit of vulnerable individuals — in this case those living with the rarest of diseases — and demonstrate a sustained commitment to helping this community gain access to diagnoses, treatments and a better quality of life.


Comprehensive biomarker testing looks for all recommended biomarkers based on clinical guidelines or when a patient is suspected of having a serious genetic disorder. It would reduce the seven-year average it currently takes to obtain a diagnosis for a rare genetic disease, offering a roadmap for treatment even before symptoms emerge. It can also lead to treatments with fewer side effects; can allow patients to access innovations that treat the cause of disease rather than only the symptoms; and can help patients avoid treatments that are likely to be ineffective or unnecessary.


Another crucial bill the Massachusetts Legislature should send to Gov. Healey this year is a Copay Accumulator ban. This legislation would close loopholes to stop insurers from implementing so-called copay accumulator adjusters. Under these adjusters, insurers take money that patients receive from third parties such as drug manufacturers or advocacy groups that is meant to help offset out-of-pocket expenses for medications and only applies the remainder – what the patient pays – towards meeting a deductible and out-of-pocket maximum. It’s a form of double dipping by insurers that leaves patients having to meet full out-of-pocket maximums.

Read the full column at the Boston Business Journal.

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