Patient reported outcomes and patient empowerment in clinical genetics services

Abstract

Evaluation of clinical genetics services (CGS), including genetic counseling and genetic testing, has been problematic. Patient mortality and morbidity are unlikely to be directly improved by interventions offered in CGS. Patient‐reported outcomes (PROs) are not routinely measured in CGS evaluation, but this may change as patient‐reported outcome measures (PROMs) become a key part of how healthcare services are managed and funded across the world. However, there is no clear consensus about which PROMs are most useful for CGS evaluation. This review summarizes the published research on how PROs from CGS have been measured and how patients may benefit from using those services, with a focus on patient empowerment. Many patient benefits (PROs) identified repeatedly in the research literature can be re‐interpreted within a patient empowerment framework. Other important PROs identified include family functioning, social functioning, altruism, sense of purpose, enabling development of future research and treatment/participating in research. Well‐validated measures are available to capture (dimensions of) patient empowerment. Although generic measures of family functioning are available, suitable measures capturing social functioning, development of future treatments, and altruism were not identified in this review. Patient empowerment provides one useful approach to measuring PROs from CGS.

Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling

“…However, this report did not evaluate participant perceptions of the content and delivery of TC versus UC. The assessment of such patient-reported quality of care measures in genetic counseling is becoming an increasingly key indicator of the potential benefits and value of such services (Biesecker et al, 2013; DeMarco, Peshkin, Mars, & Tercyak, 2004; Elliott, Chodirker, Bocangel, & Mhanni, 2014; McAllister & Dearing, 2015). Although TC and UC yield comparable psychosocial and decision making outcomes (Kinney et al, 2014; Schwartz et al, 2014), the current analysis focuses on participants’ views of these alternate approaches to pre-test genetic counseling.…”

Patient empowerment in Europe: is no further research needed?

“…However, we should not overlook PE's significant contribution toward more patient-centered health care that encourages openness and honesty, so clinicians and patients can freely discuss their views [35]. Facilitated by the Internet [36], power has been shifting in our society anyway [22], health care included. Although many physicians initially resisted the idea of increased PE, nowadays the general concept has become broadly accepted [37], and empowered patients mayhopefully-induce cost savings for health-care systems too [23,38], especially for chronic diseases, through lower use of emergency and hospital services.…”

“…Diabetes was the very first pathology to which PE was applied as a concept [21], probably not by chance, as this chronic disease has heavy effects on lifestyle and patients (by daily self-care) play a major role in managing their own health over the long term, with periodic contacts limited to primary care services whether well monitored [22]. Later, PE was applied to any condition, from rare to acute disease [23], although it would seem arguable, especially for the latter which are mainly treated in hospital.…”

The need to develop an evidence base for genetic counselling in Europe

“…6 GCOS-24 was used in service evaluation exercises in six of the 25 UK regional clinical genetics centres in 2011-2013, and in Canada to evaluate psychiatric genetic counselling in 2013. 7 Findings demonstrated that genetic counselling can deliver significant measurable patient benefits.…”

“…6 Nevertheless, several challenges remain across Europe: (i) professionals from many backgrounds (eg, nurses, psychologists and scientists) are trained in genetic counselling but their counselling skills remain uneven irrespective of training; (ii) counselling interventions are only exceptionally evidence-based; genetic counsellors have heterogeneous views and approaches to psychological interventions; 10 (iii) professional guidelines regarding evidence-based genetic counselling are still emerging while evidencebased psychological counselling/psychotherapy guidelines are already available (see http://www.nice.org.uk; http://www.div12.org/Psychological Treatments/index.html; Cochrane Reviews http://www.cochrane.org). These guidelines could provide a starting point for calibrating evidence-based genetic counselling practice.…”