Spinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Abstract

Genetic testing for spinocerebellar ataxia is used in diagnosis of rare movement disorders. Such testing generally does not affect treatment, but confirmation of mutations in a known gene can confirm diagnosis and end an often years-long quest for the cause of distressing and disabling symptoms. Through interviews and a web forum hosted by the National Ataxia Foundation, patients and health professionals related their experiences with the effect of patents on access to genetic testing for spinocerebellar ataxia. In the United States, Athena Diagnostics holds either a patent or an exclusive license to a patent in the case of six spinocerebellar ataxia variants (spinocerebellar ataxia 1-3 and 6-8) and two other hereditary ataxias (Friedreich's Ataxia and Early Onset Ataxia). Athena has enforced its exclusive rights to spinocerebellar ataxia-related patents by sending notification letters to multiple laboratories offering genetic testing for inherited neurological conditions, including spinocerebellar ataxia. Roughly half of web forum respondents had decided not to get genetic tests. Price, coverage and reimbursement by insurers and health plans, and fear of genetic discrimination were the main reasons cited for deciding not to get tested. Price was cited as an access concern by the physicians, and as sole US provider, coverage and reimbursement depend on having payment agreements between Athena and payers. In cases in which payers do not reimburse, the patient is responsible for payment, although some patients can apply to the voluntary Athena Access and Patient Protection Plan offered by the company.

FIGURE 1. CLINICAL SCALES USED TO DETERMINE SCA VARIANTS

Many neurologists have attempted to create neurological tests that can increase SCA diagnose accuracy before attempting genetic testing. From Mashke M et al. Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypes. Movement Disorders 2005. 20(11):1405–1412, at 1410. Copyright © 2005, John Wiley & Sons, Inc. Reproduced with permission of John Wiley & Sons, Inc.

FIGURE 2. DIAGNOSTIC TREE FOR SPINOCEREBELLAR ATAXIA

The diagnostic tree for SCA relies on many different tools. The most powerful remains family history, as this can quickly bring a patient to genetic testing. Because most ataxias are sporadic (not due to known inheritable factors), genetic testing does not occur early in the tree. From Zumrova A. Problems and possibilities in the differential diagnosis of syndrome spinocerebellar ataxia. Neuro Endocrinol Lett 2005. 26(2): 98–108.

FIGURE 3. EXAMPLE OF A CEASE AND DESIST LETTER

Athena Diagnostics has protected their intellectual property rights using letters like the above.