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.
Abstract:
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:
A Comparative Safety Analysis of Medicines Based on the UK Pharmacovigilance and General Practice Prescribing Data in England.
BACKGROUND/AIM: Adverse drug reactions (ADRs) represent a major concern leading to significant increases in both morbidity and mortality globally. Providing healthcare professionals (HCPs) and patients with real-world data on drug safety is imperative to facilitate informed decision-making. The study aimed to determine the feasibility of creating comparative safety charts for medicines by mapping ADR reporting onto prescribing data. MATERIALS AND METHODS: Data on serious and fatal ADR reports from the Yellow Card database was mapped onto general practice prescription data in England. The rate of serious and fatal ADR reports per million items prescribed was calculated for commonly-prescribed medicines. RESULTS: Quantitative comparative analyses for 137 medicines belonging to 26 therapeutic classes were conducted. Significant differences were observed within most therapeutic classes for the rate of serious and fatal ADR reports per prescribing unit. CONCLUSION: Despite the limitations of ADR reporting and prescribing databases, the study provides a proof-of-concept for the feasibility of mapping ADR reporting onto prescribing data to create comparative safety charts that could support evidence-based decision-making around formulary choices.
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:
Development of a secure website to facilitate information sharing in families at high risk of bowel cancer— the familyweb study
Individuals with pathogenic variants in genes predisposing to bowel cancer are encour-aged to share this information within their families. Close relatives at 50% risk can have access to bowel cancer surveillance. However, many relatives remain unaware of their vulnerability or have insufficient information. We investigated the feasibility and acceptability of using a secure website to support information sharing within families at high risk of bowel cancer. Patients (n = 286) answered an anonymous cross-sectional survey, with 14 participating in telephone interviews. They reported that the diagnosis had a profound effect on them and their family relationships, and consequently desired more support from health professionals. Website content was created in response to the preferences of survey and interview participants. Reactions to the website from 12 volunteers were captured through remote usability testing to guide further refinement of the website. Participants welcomed the opportunity to store and share personal information via the website and wanted more information and help informing their relatives about the diagnosis. Important website topics were: healthy lifestyle; genetic testing; and how to talk to children about the diagnosis. A website providing online access to confidential documents was both feasible and acceptable and could translate into increased uptake of cancer surveillance, resulting in lower morbidity and mortality in these families.
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
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.
Abstract:
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.
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:
Influence of family history on penetrance of hereditary cancers in a population setting
AbstractBackgroundWe sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort.MethodsWe analysed 454,712 UK Biobank participants with exome sequence and clinical data. We identified participants with a self-reported family history of breast or colorectal cancer and a pathogenic/likely pathogenic variant in the major genes responsible for hereditary breast cancer or Lynch syndrome. We calculated survival to cancer diagnosis (controlled for age, sex, death, recruitment centre, screening and prophylactic surgery).ResultsWomen with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was significantly higher in those with a first-degree family history (relative hazard 10.29 and 7.82, respectively) than those without (7.82 and 4.66). Penetrance to age 60 was also higher in those with a family history (44.7% and 24.1%) versus those without (22.8% and 17.9%). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of bowel cancer that was significantly higher in those with a family history (relative hazard 63.7, 68.4 and 12.1) than those without (20.9, 18.6 and 5.9). Penetrance to age 60 was also higher for carriers of a pathogenic MLH1 or MSH2 variant in those with a family history (27.1% and 25.2%) versus those without (15.2% and 3.2%).ConclusionsIndividuals with pathogenic cancer syndrome variants are at significantly less elevated risk of cancer in the absence of family history (risk ratio 0.57), so invasive follow-up may be unwarranted.
Abstract.
2022
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:
A Comparative Safety Analysis of Medicines Based on the UK Pharmacovigilance and General Practice Prescribing Data in England.
BACKGROUND/AIM: Adverse drug reactions (ADRs) represent a major concern leading to significant increases in both morbidity and mortality globally. Providing healthcare professionals (HCPs) and patients with real-world data on drug safety is imperative to facilitate informed decision-making. The study aimed to determine the feasibility of creating comparative safety charts for medicines by mapping ADR reporting onto prescribing data. MATERIALS AND METHODS: Data on serious and fatal ADR reports from the Yellow Card database was mapped onto general practice prescription data in England. The rate of serious and fatal ADR reports per million items prescribed was calculated for commonly-prescribed medicines. RESULTS: Quantitative comparative analyses for 137 medicines belonging to 26 therapeutic classes were conducted. Significant differences were observed within most therapeutic classes for the rate of serious and fatal ADR reports per prescribing unit. CONCLUSION: Despite the limitations of ADR reporting and prescribing databases, the study provides a proof-of-concept for the feasibility of mapping ADR reporting onto prescribing data to create comparative safety charts that could support evidence-based decision-making around formulary choices.
Abstract.
Author URL.
2021
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:
Development of a secure website to facilitate information sharing in families at high risk of bowel cancer— the familyweb study
Individuals with pathogenic variants in genes predisposing to bowel cancer are encour-aged to share this information within their families. Close relatives at 50% risk can have access to bowel cancer surveillance. However, many relatives remain unaware of their vulnerability or have insufficient information. We investigated the feasibility and acceptability of using a secure website to support information sharing within families at high risk of bowel cancer. Patients (n = 286) answered an anonymous cross-sectional survey, with 14 participating in telephone interviews. They reported that the diagnosis had a profound effect on them and their family relationships, and consequently desired more support from health professionals. Website content was created in response to the preferences of survey and interview participants. Reactions to the website from 12 volunteers were captured through remote usability testing to guide further refinement of the website. Participants welcomed the opportunity to store and share personal information via the website and wanted more information and help informing their relatives about the diagnosis. Important website topics were: healthy lifestyle; genetic testing; and how to talk to children about the diagnosis. A website providing online access to confidential documents was both feasible and acceptable and could translate into increased uptake of cancer surveillance, resulting in lower morbidity and mortality in these families.
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.
2020
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.
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
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.
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
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.
2017
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.
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.
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).
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).
2015
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.
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). 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).
2013
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.
2012
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.
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