Impact of a cancer registry-based genealogy service to support clinical genetics services.

In collaboration with the network of genetics clinics in Scotland, a brief questionnaire was designed to gather data prospectively about the impact of information arising from pedigree research provided by Scottish Cancer Registry personnel. Pedigree research in Scotland is facilitated by access to public records of births, deaths, marriages, and historic census returns up to 1901, and enables the construction of accurate and extensive family pedigrees encompassing generations beyond the detailed knowledge of the proband. Subject to existing confidentiality guidelines, linkage of these pedigrees to cancer registration records results in a more comprehensive family history including the age at diagnosis of any cancer, multiple primary cancers, and cancers unreported from death certificates. Of 454 requests for pedigree research completed between 1 April 2002 and 31 March 2003, questionnaires were returned for 425 (94%). The information fed back to genetics clinics led to changes in family history, risk categorisation, and management in 41%, 30%, and 23% of cases, respectively. Management advice altered in both directions, that is, to institute active follow-up and surveillance of clinic attendees and their relatives where none was previously envisaged, and viceversa. The interests of current and future generations of patients concerned about their familial risk of cancer will be served by measures which enable cancer registries to collect data that are as accurate and complete as possible.

National study of cause-specific mortality in rheumatoid arthritis, juvenile chronic arthritis, and other rheumatic conditions: a 20 year followup study.

OBJECTIVE: To quantify risks for cause-specific mortality among hospitalized patients with rheumatoid arthritis (RA), juvenile chronic arthritis (JCA), and 4 other rheumatic conditions in a nationwide, population based cohort over a 20 year period. METHODS: All subjects were identified from Scottish hospital inpatient records from 1981 to 2000 and were followed up by computer linkage to the national registry of deaths. Expected mortality was calculated from national mortality rates and was related to the observed incidence by the standardized mortality ratio (SMR) and the corresponding 95% confidence interval (95% CI). RESULTS: Overall mortality was elevated in each of the 6 rheumatic conditions examined, most notably in JCA (males: SMR 3.4, 95% CI 2.0,5.5; females: SMR 5.1, 95% CI 3.2,7.8). Among patients with RA, there was an increased risk for death in all International Classification of Disease chapters other than those relating to mental disorders. Specific causes of death with an increased risk for subjects with RA included lung cancer [males: 1.4 (1.2,1.5); females: 1.6 (1.5,1.8)], hematopoietic malignancies [M: 1.8 (1.4,2.3); F: 2.0 (1.7,2.3)], coronary artery disease (CAD) [M: 1.6 (1.5,1.7); F: 1.95 (1.9,2.0)], respiratory infections [M: 1.9 (1.7,2.2); F: 2.4 (2.3,2.6)], chronic obstructive pulmonary disease [M: 1.8 (1.6,2.0); F: 2.1 (1.9,2.3)], and renal failure [M: 3.1 (2.5,3.9); F: 3.5 (3.0,4.0)]. Conversely, RA subjects were less likely to die from gastrointestinal tract malignancies [M: 0.82 (0.7,1.0); F: 0.8 (0.7,0.9)]. CONCLUSION: Population studies for primary data collection are required to extend our knowledge about the underlying mechanisms of early mortality in patients with rheumatic conditions.