open access: Viewpoint: Quality standards and samples in genetic testing - Journal of Clinical Pathology

Blogger's Note: includes reference to BRCA/

Quality standards and samples in genetic testing -- Ravine and Suthers 65 (5): 389 -- Journal of Clinical Pathology

Conclusion

The goal of a clinician is to provide the patient with an accurate diagnosis, prognosis and therapeutic options, including in relation to diseases for which genetic tests are available. Similarly, the goal of a medical laboratory is to provide the right result for the right patient in a timely fashion every time. Alexander Pope wrote in An Essay on Criticism that ‘To err is human…’. Three hundred years later, his message is still potent. All arenas of human endeavour are at risk of human error, and the emerging discipline of genetic testing is not immune. Errors will occur here, as they do in other areas of laboratory testing, and medicine in general. It is of little comfort that sample errors, such as WBIT, are likely to be more common than reports of adverse incidents. 

Like the proverbial elephant in the room, we know the errors are present but we hesitate to talk about them. The issue must be addressed, however, because errors in genetic testing have the potential to prompt clinical decisions with a high risk of attendant harm. They may also direct important life choices for those being tested, with ramifications that may influence human health and welfare at all developmental stages. Some errors will invariably lead to outcomes over which the person being tested will have no control, such as wrongful conviction in a court of law. Errors in genetic testing may also waste the increasingly scarce health dollars, and place individual healthcare practitioners at professional, legal and financial risk. It is now time for the profession to consider the full range of errors that are possible along the genetic test processing chain from patient to result, and devise appropriate risk minimisation strategies. Until such data are available, individual healthcare practitioners involved in genetic testing should consider the associated possible risks to patient health and welfare, and look beyond the baseline standard of testing a single sample.