Case-finding and genetic testing for familial hypercholesterolaemia in primary care

Objective Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at in...

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Published in:Heart
Main Author: Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
Format: Article
Language:English
Published: BMJ Publishing Group 2021
Online Access:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85120546710&doi=10.1136%2fheartjnl-2021-319742&partnerID=40&md5=78a56f6500c7e1cd47ffa7abf7aea53a
id 2-s2.0-85120546710
spelling 2-s2.0-85120546710
Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
Case-finding and genetic testing for familial hypercholesterolaemia in primary care
2021
Heart
107
24
10.1136/heartjnl-2021-319742
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85120546710&doi=10.1136%2fheartjnl-2021-319742&partnerID=40&md5=78a56f6500c7e1cd47ffa7abf7aea53a
Objective Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results. Methods In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care. Results Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002). Conclusion Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care. © Author(s) (or their employer(s)) 2021.
BMJ Publishing Group
13556037
English
Article
All Open Access; Hybrid Gold Open Access
author Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
spellingShingle Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
Case-finding and genetic testing for familial hypercholesterolaemia in primary care
author_facet Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
author_sort Qureshi N.; Akyea R.K.; Dutton B.; Humphries S.E.; Hamid H.A.; Condon L.; Weng S.F.; Kai J.; Roderick P.; Neely D.; Neil A.; Williams S.; Jones M.; Walters K.; Payne K.; Hanratty B.
title Case-finding and genetic testing for familial hypercholesterolaemia in primary care
title_short Case-finding and genetic testing for familial hypercholesterolaemia in primary care
title_full Case-finding and genetic testing for familial hypercholesterolaemia in primary care
title_fullStr Case-finding and genetic testing for familial hypercholesterolaemia in primary care
title_full_unstemmed Case-finding and genetic testing for familial hypercholesterolaemia in primary care
title_sort Case-finding and genetic testing for familial hypercholesterolaemia in primary care
publishDate 2021
container_title Heart
container_volume 107
container_issue 24
doi_str_mv 10.1136/heartjnl-2021-319742
url https://www.scopus.com/inward/record.uri?eid=2-s2.0-85120546710&doi=10.1136%2fheartjnl-2021-319742&partnerID=40&md5=78a56f6500c7e1cd47ffa7abf7aea53a
description Objective Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results. Methods In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care. Results Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002). Conclusion Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care. © Author(s) (or their employer(s)) 2021.
publisher BMJ Publishing Group
issn 13556037
language English
format Article
accesstype All Open Access; Hybrid Gold Open Access
record_format scopus
collection Scopus
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