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.
Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis. Seven PHCPs (four nurses, two consultants, and one clinical psychologist) were interviewed. Participants reported feeling unfamiliar with the role of clinical genetics services, and did not feel confident in addressing genetic issues with their patients. A lack of scientific knowledge and unawareness of existing infrastructure to support their patients were cited. Many stated that palliative patients are interested in exploring a potential hereditary component to their disease, and acknowledged the potential for psychological benefit for their patients and their families. Most stated that addressing genetics fits within their skill set, but expressed concern about issues of consent, logistical difficulties, and ethical dilemmas. These perceptions differ considerably from those reported in existing literature. Importantly, each participant stated that the potential benefits of addressing genetic issues outweighed the potential for harm in most cases. These results suggest a need for clinical genetics staff to develop closer links with their local PHCPs and to provide education. Clinical psychologists may also be a helpful resource to address PHCPs' concerns.
coal workers who have been carefully observed for periods of time ranging from three months to five years. Lest some physicians erroneously apply these conclusions to coal workers as a group, we feel compelled to comment on and examine their data more critically.Ross and his colleagues report a 15% incidence of bronchial asthma in these 40 patients. This is about 10 times the reported incidence in the general population. Is the reader to assume that bronchial asthma is more frequent in coal workers, or that this is an unusual group of patients? Certainly we have no reason to question the accuracy of the diagnosis. Although a detailed analysis of our own cases has not been completed, it appears that the incidence of bronchial asthma will not exceed 2%. It is generally acknowledged that patients suffering from bronchial asthma commonly have associated psychogenic dis¬ turbances. Perhaps this disproportionately large incidence of bronchial asthma may be responsible for the unusually high incidence of psychoneurosis in these 40 persons. Additional ex¬ amination of the data presented by Ross and his colleagues indicates that psychogenic factors contributed to varying degrees of disability in 87.5% of their cases and that in 35% they were the exclusive cause of disability. Examination of our last 200 consecutive clinic admissions of coal workers with respiratory complaints revealed psychogenic disturbances in 15.7%. This is not only far less than the incidence reported by Ross and his co-workers but also less than that seen in the population as a whole. Emotional factors unquestionably play a variable role in all patients suffering from disease, whether they be coal miners, lawyers, or doctors. In spite of the inherent socioeconomic difficulties associated with their occupation, our long experience with coal workers indicates that psychogenic disturb¬ ances are less frequent than one would reasonably expect in this group. The incidence of psychoneurosis in the many thousands of coal miners with respiratory complaints cannot be extra¬ polated from an analysis of only 40 subjects. A larger and more satisfactory sample would be necessary in order to derive statis¬ tical data that may be considered valid and applicable to this group of persons. embarked on a comprehensive program to improve the standards of performance in various fields of clinical pathology, including clinical chemistry, microbiology, and hematology. It emphasizes the principle that a pathologist must be broadly trained in these newer fields, not in tissue pathology alone. In its seven regional programs, the college collaborates with state pathological societies in educational programs for its members, especially in the fields mentioned. These regional programs supplement the national educational programs conducted so effectively by the American Society of Clinical Pathologists. The college has also sponsored voluntary proficiency surveys of laboratory procedure at the local level, to detect and to help correct errors in methodology present in the laborat...
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