Peering into the chasm: Improving the quality of clinical genetic services^†

Between the health care we have and the care we could have lies not just a gap, but a chasm.

This call to arms, from the US Institute of Medicine (IOM), has inspired much activity and many improvements in clinical services. The IOM report, Crossing the Quality Chasm [Committee on Quality of Health Care in America. Institute of Medicine, 2001], published in March 2001 was a significant step in a journey that goes back many years, beginning in other industries and only latterly embraced by the health care sector.

In 2003, on a Health Foundation fellowship, one of us (JG) was fortunate to spend a year in Cambridge, Massachusetts, at the Institute for Healthcare Improvement, of which the other (DB) is the President and CEO. JG brought with him the experience of being a consultant clinical geneticist, and head of service. “I didn't realize how much more there was for me to learn. I had been exposed to none of the language of quality improvement at medical school—technical concepts like reliability, flow, continuous quality improvement, quality improvement tools, and techniques, and more. I hadn't spent much time looking outside my own ‘world’ for solutions to difficult problems facing health care delivery.”

Clinical genetics is a discipline undergoing huge changes, driven by rapid scientific discovery. It benefits from a committed, innovative, and knowledgeable workforce. The clinical genetics community, however, faces a challenge in being able to describe the services it provides and to measure their quality. Across the health care world, the evidence is strong that quality of service is frequently inadequate. The IOM's Chasm report and subsequent reports in UK [Smith and Toft, 2005] document the inadvertent harm done to patients by the care that is intended to help them. The reports challenge us to look closely at the specialty care we provide. Using the framework of six “aims for improvement” articulated by the IOM, we in clinical genetics should map our work against the domains of quality: safe; effective; efficient; patient centered; timely; and equitable. Such scrutiny will reveal both the strengths and the weaknesses in our provision of care to patients. This is a precondition to quality improvement; we will not repair the defects we don't see.

Measuring outcomes is an area of debate, since outcomes depend on varying and personal choices made by patients (clients). Recognizing this difficulty, where and how do we look for indicators that allow us to understand where we are now as a service and where we may move to (with new investments and service changes) and that allow us to compare services as we move toward a learning culture? A culture of continuous improvement would help us ensure that our patients are in the safest possible environment, and would also help us justify to the commissioners, the payers, and the general public that our services are efficient and of high value.

We are not there at the moment. Currently a curious patient, potential user, or even a provider of a clinical genetics service would find it difficult to get systematic information that compares services.

To help address this challenge of transparency and continuous improvement, a collaborative among genetic services, users and commissioners of services, public health, government, and academics has developed, spanning the Atlantic, to identify the key quality indicators for genetic services. A process has begun of considering possible indicators, a pilot exploration of the proposed indicators, and a series of stakeholder meetings to refine and finalize indicators that will support a much deeper understanding of the quality within clinical genetic services and the variations thereof.

So far, so good. But as we increase our capacity to assess, measure, and compare, it will be helpful to draw upon the key learning from the quality improvement community. The aim is not just to measure, but rather to use those measurements as a foundation for making changes that are improvements. So with the development of indicators for our services we should not be content with having indicators; we should also ensure that resources and capacity are in place to learn from the measurements and to change and improve services.

Other specialties in the US and elsewhere are rapidly adopting the potent combination of measurement, transparency, and continuous, collaborative learning and improvement. In many cases, this has required courage in a medical and public culture that still spends enormous energy pursuing “bad apples” and assuming that defects come from a defective workforce rather than from poorly designed processes. Nonetheless, professional societies and organizations like the Cystic Fibrosis Foundation, the Society of Thoracic Surgeons, the American College of Surgeons “NISQIP” project, and the American College of Cardiology's “Get with the Guidelines” program have taken giant steps toward a culture of self-awareness, disclosure, open comparison, and continual learning and improvement. Clinical genetics can do the same.

Let's identify the opportunity to build on the American College of Medical Genetics Quality Improvement special interest group led by Marc Williams and aim to see analyses of, explorations of, and plans for improving genetics service quality at every specialty meeting.

The work outlined in this issue of Seminars turns a spotlight on the quality of clinical genetics provision. Shining such a light does not signal any disrespect or lack of appreciation for the people working so hard to deliver services. On the contrary, it brings us together, learning together in the cause of even better provision of care for our patients.