Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study

Table 6 Patient outcome feedback results

Patient EHR	Suggested disease	Action taken by GP	Outcome
1	Classic Homocystinuria	Discuss with patient	Not available
2	Fabry Disease	Discuss with patient	Not available
3	Alpha-1 antitrypsin deficiency	Alpha-1-antitrypsin level	Normal
4	Alpha-1 antitrypsin deficiency	Alpha-1-antitrypsin level	Normal
5	Loeys-Dietz syndrome	Referral to a cardiologist	Seen by cardiologist, pending cardiologist letter
6	Loeys-Dietz syndrome	Referral to a cardiologist	Seen by cardiologist, pending cardiologist letter
7	Beckwith-Wiedemann syndrome	Discuss with patient	Not available
8	Alpha-1 antitrypsin deficiency	Alpha-1-antitrypsin level	Normal
9	DiGeorge syndrome—22q11 deletion syndrome	Referral to a clinical geneticist	Seen by clinical geneticist Microarray negative

ISSN: 1750-1172