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Dr Leigh Jackson

Lecturer in Genomic Medicine

01392 408328

RILD Building 4.07

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Overview

Leigh has a combination of experience in both laboratory and social science settings. His current work involves investigating the penetrance of rare genetic variants in population cohorts and the implications for patient communication. His previous work around informed consent for genetic testing in research and the clinic was a natural extension of his time based in a research laboratory within Derby General Hospital, during which time he was responsible for obtaining informed consent to participate in genetic research from women undergoing clinical treatment. Closely working with NHS scientists, nurses, midwives and surgeons within the 100,000 Genomes Project, as well as in fertility and oncology contexts has given Leigh a sound understanding of the healthcare system – an absolute necessity for health services research. His progression into social science research has been helped enormously by his involvement in a number of pan-European, multi-disciplinary, multi-partner projects where he has worked alongside the preeminent clinical, ethical and social researchers in genomics. Working with human stem cells for many years gave Leigh invaluable insight into the myriad ethical issues and concerns which closely mirror those surrounding the current debate on genome-wide technologies. Leigh has experience of conducting systematic reviews, and both qualitative thematic analysis and quantitative analysis of large datasets, including UK Biobank data.

In 2014, Leigh volunteered to be deployed to Sierra Leone as part of the Public Health England response to the Ebola epidemic. He worked as part of a team to establish a rural field lab in a treatment centre testing samples from the local community for Malaria and Ebola.

Leigh currently lectures on a number of undergraduate and post-graduate modules giving him experience of teaching to both student and fully qualified healthcare professionals. He has received positive feedback from students and course leads, and in March 2015 he was nominated for an SSTAR staff award for outstanding contribution to University life. Leigh also leads the Gen-Equip project delivering genetics education to primary care which received the 2017 European Health Award from the European Health Forum Gastein.

Leigh has supervised two PhD students to successful completion and has another student who has just started, along with a large number of MSc students; in previous roles Leigh has been responsible for the training and supervision of:

• Medical doctorate students on their 6-month laboratory placements

• PhD students

• Master’s students

• Undergraduate project students.

Qualifications

BSc (Hons) Genetics
PgCert Genomic Medicine
PgCert Academic Practice
PhD Human Development

Grants/Funding:

Sanctuary PhD Scholarship award (primary supervisor) £90,000. Pharmacogenomic risk genotypes in UK Biobank
Science foundation Ireland, €48750 (Co-investigator) Developing resources and touring Southern Ireland regarding the options available for genetic testing around and during pregnancy. (Project not yet commenced due to referendum)
Gastein Forum, European Health Award, €10,000 2017
Astra Zeneca unrestricted educational grant, £43,492 (Co-investigator) 2015
ERASMUS + GenEquip project grant €246,748 (named researcher) 2014
Plymouth University Pump-priming grant 2014
Visiting researcher fellowship, Brocher Foundation, Geneva. March-April 2014
EU COST CHIP-ME project grant (UK substitute management committee member) €36,000,000 2013
EU TEMPUS MedGen project grant (Project council member and named researcher) €742,877 2013
Plymouth University Social Science collaboration fund 2012-2013
Plymouth University Pump-Priming grant 2011-2012

Research

Research interests

Penetrance of rare genetic variants in population cohorts
Incidental and secondary findings from genomic testing
Patient communication of risk
Pharmacogenomic risk variants and duty to disclose to research participants
Genomics education interventions for healthcare professionals

Research projects

Current Projects:

Assessing the prevalence, penetrance and pathogenicity of rare genomic variants in UK Biobank
Assessing the prevalence of genotypes conferring a risk of severe adverse drug reaction in participants of UK Biobank and determining if and where a risk threshold exists to require ethical disclosure of this information

Publications

Key publications | Publications by category | Publications by year

Publications by category

Journal articles

Weedon MN, Jackson L, Harrison JW, Ruth KS, Tyrrell J, Hattersley AT, Wright CF (In Press). Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing.

ABSTRACTObjectivesTo determine the analytical validity of SNP-chips for genotyping very rare genetic variants.DesignRetrospective study using data from two publicly available resources, the UK Biobank and the Personal Genome Project.SettingResearch biobanks and direct-to-consumer genetic testing in the UK and USA.Participants49,908 individuals recruited to UK Biobank, and 21 individuals who purchased consumer genetic tests and shared their data online via the Personal Genomes Project.Main outcome measuresWe assessed the analytical validity of genotypes from SNP-chips (index test) with sequencing data (reference standard). We evaluated the genotyping accuracy of the SNP-chips and split the results by variant frequency. We went on to select rare pathogenic variants in the BRCA1 and BRCA2 genes as an exemplar for detailed analysis of clinically-actionable variants in UK Biobank, and assessed BRCA-related cancers (breast, ovarian, prostate and pancreatic) in participants using cancer registry data.ResultsSNP-chip genotype accuracy is high overall; sensitivity, specificity and precision are all >99% for 108,574 common variants directly genotyped by the UK Biobank SNP-chips. However, the likelihood of a true positive result reduces dramatically with decreasing variant frequency; for variants with a frequency <0.001% in UK Biobank the precision is very low and only 16% of 4,711 variants from the SNP-chips confirm with sequencing data. Results are similar for SNP-chip data from the Personal Genomes Project, and 20/21 individuals have at least one rare pathogenic variant that has been incorrectly genotyped. For pathogenic variants in the BRCA1 and BRCA2 genes, the overall performance metrics of the SNP-chips in UK Biobank are sensitivity 34.6%, specificity 98.3% and precision 4.2%. Rates of BRCA-related cancers in individuals in UK Biobank with a positive SNP-chip result are similar to age-matched controls (OR 1.28, P=0.07, 95% CI: 0.98 to 1.67), while sequence-positive individuals have a significantly increased risk (OR 3.73, P=3.5×10−12, 95% CI: 2.57 to 5.40).ConclusionSNP-chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.SUMMARY BOXSection 1: What is already known on this topicSNP-chips are an accurate and affordable method for genotyping common genetic variants across the genome. They are often used by direct-to-consumer (DTC) genetic testing companies and research studies, but there several case reports suggesting they perform poorly for genotyping rare genetic variants when compared with sequencing.Section 2: What this study addsOur study confirms that SNP-chips are highly inaccurate for genotyping rare, clinically-actionable variants. Using large-scale SNP-chip and sequencing data from UK Biobank, we show that SNP-chips have a very low precision of <16% for detecting very rare variants (i.e. the majority of variants with population frequency of <0.001% are false positives). We observed a similar performance in a small sample of raw SNP-chip data from DTC genetic tests. Very rare variants assayed using SNP-chips should not be used to guide health decisions without validation.

Abstract.

Mokbel K, Daniels R, Weedon MN, Jackson L (2022). A Comparative Safety Analysis of Medicines Based on the UK Pharmacovigilance and General Practice Prescribing Data in England. In Vivo, 36(2), 780-800. Abstract. Author URL.

Goodman S, Skirton H, Jackson L, Jones RB (2021). Development of a secure website to facilitate information sharing in families at high risk of bowel cancer— the familyweb study. Cancers, 13(10). Abstract.

Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H (2021). Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes. Journal of Community Genetics, 12(4), 685-691.

Turner H, Jackson L (2020). Evidence for penetrance in patients without a family history of disease: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS, 28(5), 539-550. Author URL.

Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H (2019). Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents. European Journal of Human Genetics, 27(2).

Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, et al (2019). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 27(2).

Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Jr MM, Stefansdottir V, Turchetti D, Campos M, et al (2019). The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages (vol 21, pg 718, 2018). GENETICS IN MEDICINE, 21(7), 1669-1669. Author URL.

Godino L, Jackson L, Turchetti D, Hennessy C, Skirton H (2018). Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study. European Journal of Human Genetics, 26(1).

Carrieri D, Jackson L, Bewshea C, Prainsack B, Mansfield J, Ahmad T, Hawkins N, Kelly S (2018). Ethical issues in genomic research: Proposing guiding principles co-produced with stakeholders. Clinical Ethics, 13(4), 194-198.

Vears DF, Senecal K, Clarke AJ, Jackson L, Laberge AM, Lovrecic L, Piton A, Van Gassen KLI, Yntema HG, Knoppers BM, et al (2018). Points to consider for laboratories reporting results from diagnostic genomic sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS, 26(1), 36-43. Author URL.

Jackson L, O’Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Macek M, Stefansdottir V, Turchetti D, Campos M, et al (2018). The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Genetics in Medicine, 1-1.

Borry P, Bentzen HB, Budin-Ljøsne I, Cornel MC, Howard HC, Feeney O, Jackson L, Mascalzoni D, Mendes Á, Peterlin B, et al (2018). The challenges of the expanded availability of genomic information: an agenda-setting paper. Journal of community genetics, 9(2), 103-116.

Wassall R, Jackson L, Prasad S, Homfray T, Skirton H (2017). Health care for young adults undergoing predictive genetic testing for cardiomyopathies. British Journal of Cardiac Nursing, 12(8), 378-386.

Paneque M, Cornel MC, Curtisova V, Houwink E, Jackson L, Kent A, Lunt P, Macek M, Stefansdottir V, Turchetti D, et al (2017). Implementing genetic education in primary care: the Gen-Equip programme. Journal of community genetics, 8(2), 147-150.

Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H (2016). A systematic review of interventions to provide genetics education for primary care. BMC family practice, 17(1).

Pisnoli L, O’Connor A, Goldsmith L, Jackson L, Skirton H (2016). Impact of fetal or child loss on parents’ perceptions of non-invasive prenatal diagnosis for autosomal recessive conditions. Midwifery, 34, 105-110.

Hennessy C, Jackson L, Turchetti D, Godino L, Skirton H (2016). Impact of presymptomatic genetic testing on young adults: a systematic review.

Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H (2016). Impact of presymptomatic genetic testing on young adults: a systematic review. European Journal of Human Genetics, 24(4).

Skirton H, Jackson L (2015). Factors Affecting the Clinical Use of Non-Invasive Prenatal Testing.

Jackson L, O'Connor A, Goldsmith L, Skirton H (2015). Management of Incidental Findings from Genetic Tests: Perspectives of Ethics Committee Members. Journal of Clinical Research & Bioethics, 6(3).

Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty LS (2015). Non‐invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers. Prenatal diagnosis, 35(12), 1167-1175.

O'connor A, Jackson L, Goldsmith L, Skirton H (2014). Can I get a retweet please? Health research recruitment and the Twittersphere. Journal of advanced nursing, 70(3), 599-609.

Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L (2014). Erratum: Offering prenatal diagnostic tests: European guidelines for clinical practice. European Journal of Human Genetics, 22(5), 714-714.

Jackson L, Goldsmith L, Skirton H (2014). Guidance for patients considering direct-to-consumer genetic testing and health professionals involved in their care: development of a practical decision tool. Family practice, 31(3), 341-348.

Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L (2014). Offering prenatal diagnostic tests: European guidelines for clinical practice. European Journal of Human Genetics, 22(5).

Patel SK, Jackson L, Warren AY, Arya P, Shaw RW, Khan RN (2013). A role for two‐pore potassium (K2P) channels in endometrial epithelial function. Journal of cellular and molecular medicine, 17(1), 134-146.

Skirton H, Jackson L, Goldsmith L, O’Connor A (2013). Are health professionals ready for direct-to-consumer genetic and genomic testing?. Personalized medicine, 10(7), 673-682.

Skirton H, Goldsmith L, Jackson L, O'Connor LA (2013). Direct to Consumer Genetic Testing: a Systematic Review of Position Statements, Policies and Recommendations (vol 68, pg 16, 2013). OBSTETRICAL & GYNECOLOGICAL SURVEY, 68(2), 160-162. Author URL.

Goldsmith L, Jackson L, O’Connor A, Skirton H (2013). Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. Journal of community genetics, 4(2), 169-180.

Skirton H, Goldsmith L, Jackson L, O'Connor LA (2013). Erratum: Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations (Obstetrical and Gynecological Survey (2013) 68:1 (16-18)). Obstetrical and Gynecological Survey, 68(2), 160-162.

Innamaa A, Jackson L, Asher V, Van Schalkwyk G, Warren A, Keightley A, Hay D, Bali A, Sowter H, Khan R, et al (2013). Expression and effects of modulation of the K2P potassium channels TREK-1 (KCNK2) and TREK-2 (KCNK10) in the normal human ovary and epithelial ovarian cancer. Clinical and Translational Oncology, 15(11), 910-918.

Innamaa A, Jackson L, Asher V, Van Shalkwyk G, Warren A, Hay D, Bali A, Sowter H, Khan R (2013). Expression and prognostic significance of the oncogenic K2P potassium channel KCNK9 (TASK-3) in ovarian carcinoma. Anticancer research, 33(4), 1401-1408.

Goldsmith L, Woodward V, Jackson L, Skirton H (2013). Informed consent for blood tests in people with a learning disability. Journal of advanced nursing, 69(9), 1966-1976.

Skirton H, Goldsmith L, Jackson L, O'Connor LA (2013). Perinatal outcome in women treated with progesterone for the prevention of preterm birth: a meta-analysis: Editorial comment. Obstetrical and Gynecological Survey, 68(1), 20-22.

Skirton H, Goldsmith L, Jackson L, Tibben A (2013). Quality in genetic counselling for presymptomatic testing—clinical guidelines for practice across the range of genetic conditions. European Journal of Human Genetics, 21(3).

Skirton H, Jackson L (2013). Utility and limitations of genetic/genomic information and testing. Nursing Standard (through 2013), 28(13).

Innamaa A, Jackson L, Asher V, van Shalkwyk G, Warren A, Hay D, Bali A, Sowter H, Khan R (2013). expression and function of the two pore potassium (k2p) channels Trek-1 (kcnk2), Trek-2 (kcnk10) and Task-3 (kcnk9) in ovarian cancer. Bjog: an International Journal of Obstetrics and Gynaecology, 120(9), e5-e6.

Rashidi H, Strohbuecker S, Jackson L, Kalra S, Blake AJ, France L, Tufarelli C, Sottile V (2012). Differences in the pattern and regulation of mineral deposition in human cell lines of osteogenic and non-osteogenic origin. Cells Tissues Organs, 195(6), 484-494.

Skirton H, Goldsmith L, Jackson L, O'Connor A (2012). Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clinical genetics, 82(3), 210-218.

Goldsmith L, Jackson L, O'connor A, Skirton H (2012). Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics, 20(8).

Skirton H, Jackson L, Goldsmith L, O’Connor A (2012). Genomic medicine: what are the challenges for the National Health Service?. Personalized medicine, 9(5), 539-545.

Jackson L, Goldsmith L, O'connor A, Skirton H (2012). Incidental findings in genetic research and clinical diagnostic tests: a systematic review. American Journal of Medical Genetics Part A, 158(12), 3159-3167.

Jackson L, Jones DR, Scotting P, Sottile V (2007). Adult mesenchymal stem cells: differentiation potential and therapeutic applications. Journal of postgraduate medicine, 53(2).

Jackson L (2001). Incidental Findings in Genetic Research and Genetic Testing. eLS

Chapters

Morrison M, Teare H, Bertier G, Buchanan J, Bylstra Y, Gaff C, Jackson L, Kato K, Kaufmann E, Kelly S, et al (2020). Chapter 8 Implications of secondary findings for clinical contexts. In (Ed) Secondary Findings in Genomic Research, 155-201.

Conferences

Eddy S, Jackson LM (2019). The concept of 'emotional distress' as a measure of outcome when assessing the impact of genetic test results; a systematic review. Author URL.

Vears D, Sénécal K, Clarke A, Yntema H, Jackson L, Lovrecic L, Piton A, Van Gassen K, Knoppers B, Borry P, et al (2017). Recommendations for the reporting of results from diagnostic next generation sequencing.

Publications by year

In Press

Abstract.

Jackson L, Weedon MN, Harrison JW, Wood AR, Ruth KS, Tyrrell J, Wright CF (In Press). Influence of family history on penetrance of hereditary cancers in a population setting. Abstract.

2022

2021

2020

Turner H, Jackson L (2020). Evidence for penetrance in patients without a family history of disease: a systematic review. EUROPEAN JOURNAL OF HUMAN GENETICS, 28(5), 539-550. Author URL.

2019

Eddy S, Jackson LM (2019). The concept of 'emotional distress' as a measure of outcome when assessing the impact of genetic test results; a systematic review. Author URL.

2018

2017

2016

Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H (2016). A systematic review of interventions to provide genetics education for primary care. BMC family practice, 17(1).

Hennessy C, Jackson L, Turchetti D, Godino L, Skirton H (2016). Impact of presymptomatic genetic testing on young adults: a systematic review.

Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H (2016). Impact of presymptomatic genetic testing on young adults: a systematic review. European Journal of Human Genetics, 24(4).

2015

Skirton H, Jackson L (2015). Factors Affecting the Clinical Use of Non-Invasive Prenatal Testing.

2014

O'connor A, Jackson L, Goldsmith L, Skirton H (2014). Can I get a retweet please? Health research recruitment and the Twittersphere. Journal of advanced nursing, 70(3), 599-609.

Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L (2014). Offering prenatal diagnostic tests: European guidelines for clinical practice. European Journal of Human Genetics, 22(5).

2013

Skirton H, Jackson L, Goldsmith L, O’Connor A (2013). Are health professionals ready for direct-to-consumer genetic and genomic testing?. Personalized medicine, 10(7), 673-682.

Goldsmith L, Woodward V, Jackson L, Skirton H (2013). Informed consent for blood tests in people with a learning disability. Journal of advanced nursing, 69(9), 1966-1976.

Skirton H, Jackson L (2013). Utility and limitations of genetic/genomic information and testing. Nursing Standard (through 2013), 28(13).

2012

Goldsmith L, Jackson L, O'connor A, Skirton H (2012). Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics, 20(8).

Skirton H, Jackson L, Goldsmith L, O’Connor A (2012). Genomic medicine: what are the challenges for the National Health Service?. Personalized medicine, 9(5), 539-545.

2007

Jackson L, Jones DR, Scotting P, Sottile V (2007). Adult mesenchymal stem cells: differentiation potential and therapeutic applications. Journal of postgraduate medicine, 53(2).

2001

Jackson L (2001). Incidental Findings in Genetic Research and Genetic Testing. eLS

Leigh_Jackson Details from cache as at 2023-03-30 20:52:17

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External Engagement and Impact

Invited lectures

Invited lecture and workshop at EU funded Pharmacogenomics summer school, 2018
Invited expert observer for launch of EU H2020 SIENNA project on ELSI in genomics and AI, 2018
Expert workshop on NGS reporting considerations, Paris 2017
Invited oral presentation on Gen-Equip project at ESHG conference, Copenhagen 2017
ESHG young investigator award shortlist 2017
Invited talk on genetic ethics at London Virology Discussion Group annual conference, 2016
Invited oral presentation on genetic education at ESHG conference, Barcelona, 2016
ESHG EMPAG young investigator award shortlist 2016
Invited talk at Brocher Foundation governance of patient-centric initiatives meeting, 2015
Expert tutor at EU CHIP-ME genome ethics summer school, Aegina, 2015
Invited talk on genetic incidental findings at World Health Organisation (WHO), Geneva. April 2014
ESHG young investigator award shortlist 2013
Invited oral presentation at ESHG conference, Paris. June 2013
Invited speaker at EuroGentest annual scientific meeting, Prague. March 2013
Poster prize winner – UK Genomics Forum, London. April 2012
Invited oral presentation – ESHG conference, Nuremburg. June 2012

Media Coverage

Teaching

Teaching responsibilities: (Undergraduate, Postgraduate)

Undergradute

Co-lead of Medical Genomics module
Delivers sessions on Medical Genetics and Pharmacogenomics modules

Postgraduate

Module lead for Counselling Skills for Genomics, ELSI online module
Co-lead for Work-Based Learning and ELSI module

Modules

2022/23

Supervision / Group

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