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

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, continuousquality 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. Dr. Jonathon Gray is trained as a medical geneticist. He is the first geneticist to complete a fellowship at the prestigious Institute for Healthcare Improvement. He is currently the Director of Healthcare Improvement, Wales Centre for Health and CoDirector 1000 Lives Campaign. Donald M. Berwick, MD, MPP, FRCP, President and CEO, Institute for Healthcare Improvement (IHI), is one of the Nation’s leading authorities on health care quality and improvement issues. He is also clinical Professor of pediatrics and health care policy at the Harvard Medical School. Dr. Berwick has served as Vice Chair of the U.S. Preventive Services Task Force, the first ‘‘Independent Member’’ of the Board of Trustees of the American Hospital Association, and as Chair on the National Advisory Council of the Agency for Healthcare Research and Quality. *Correspondence to: Jonathon R. Gray, Wales Centre for Health, 14 Cathedral Road Cardiff, Cardiff, Wales Cf11 9LJ, United Kingdom. E-mail: jgray@fellows.ihi. org DOI 10.1002/ajmg.c. 30215 Published online 20 July 2009 in Wiley InterScience (www.interscience.wiley.com)