Pedigree studies

Who is included in audit-based research, using the family trees held in patients' notes? Broadly speaking, this comprises those local, unaffected family members made up of the siblings, sons and daughters of affected women and men, or the nieces, nephews, granddaughters and grandsons, where their bloodline parent has died (Figure 19.1).

If the information recorded on a pedigree has been provided by a patient and not been exhaustively researched, it is likely to contain inaccuracies. This is unavoidable, as the patient(s) may not have been in touch with his/her relatives for years. In large extended families, it is unlikely that the different branches will even know of each other, however geographically proximate they are. Therefore, if the denominator in a calculation of uptake includes only those at 50% risk, and contact has been lost, the patients at one regional clinic may not be aware of all diagnostic and clinical activity in the family. As Figure 19.2 shows, the whole picture may be quite different, and the level of attendance and testing measured by one centre may be inaccurate.

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