@DrLMJackson

Ginger Geneticist, Genomic Medicine, Genethics, Football

 South West, England
Joined July 2019
  • Tweets149
  • Following304
  • Followers222
5Media
Thanks James! Great to have the opportunity to present a large body of work from our group, with an accompanying perspective in EJHG nature.com/articles/s41431-0…

Revisiting penetrance in an era of genomic screening

European Journal of Human Genetics - Revisiting penetrance in an era of genomic screening

nature.com
James Fasham@JamesFashamJun 16
Replying to @ejhg_journal @eshgsociety
🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 adults Careful variant & phenotype curation matters In clinically unselected populations, disease risk ⬇️ vs traditional estimates.
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Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshgsociety What should we screen for and report? What about uncertainty and harms? How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening nature.com/collections/djigc…

DNA in public health screening programmes

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

nature.com
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Leigh Jackson retweeted
James Fasham@JamesFashamJun 13
Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
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Really important topic as penetrance studies are conducted and reported inconsistently leading to difficulty in interpreting results. Great team to be a part of considering how we best avoid some of these pitfalls. TLDR variant curation is hard!
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This #GynaelogicalCancerAwarnessMonth we're reminding all #NHS professionals to ensure your #endometrialcancer patients get screened for #LynchSyndrome. Get in touch to find out how. #ThinkGenomics #Lynch #Cancer
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Leigh Jackson retweeted
AGNC@theAGNC15 Sep 2023
Thank you for highlighting this article @Chris_P_Wild what do genetic professionals think about this? Send us a comment #genechat
Chris Wild@Chris_P_Wild15 Sep 2023
This is one of the risks of separating #genetictesting (delivered direct to consumers) from professional #geneticcounselling @geneticcounsel @C_G_S @theAGNC @GenethicsForum @UKCGG theguardian.com/society/2023…

Consumer genetic test results ‘causing unnecessary breast cancer alarm’

Women with BRCA1 or BRCA2 gene variants may be told of higher cancer risk without accounting for family history

theguardian.com
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Leigh Jackson retweeted
Chris Wild@Chris_P_Wild15 Sep 2023
This is one of the risks of separating #genetictesting (delivered direct to consumers) from professional #geneticcounselling @geneticcounsel @C_G_S @theAGNC @GenethicsForum @UKCGG theguardian.com/society/2023…

Consumer genetic test results ‘causing unnecessary breast cancer alarm’

Women with BRCA1 or BRCA2 gene variants may be told of higher cancer risk without accounting for family history

theguardian.com
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Just to highlight one of my favourite plots, it shows so clearly the difference family history makes in the penetrance of these variants
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This is really fascinating insight into penetrance of pathogenic variants in large population cohorts!
Leigh Jackson@DrLMJackson15 Sep 2023
Our paper on the impact of family history on cancer risk of individuals ascertained outside of clinical channels is out today @mnweedon @carolinefwright @HarryGreenTKD @ExeterMed Influence of family history on penetrance of hereditary cancers in a p... sciencedirect.com/science/ar…
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Leigh Jackson retweeted
Luke Pilling@lcpilling14 Sep 2023
🌟Fantastic post-doc opportunity with my amazing colleague @janemasoli researching cardiovascular ageing using big data, #epidemiology and #bioinformatics methods in clinical data cohorts Closing date 27th Sept! @exeterageing @UoE_Jobs @ExeterBRC @NIHRresearch @uk_biobank
Jane Masoli@janemasoli14 Sep 2023
Calling all health data geeks! Looking for a post-doc to work with the @uniofexeHLS team in ageing and cardiovascular health. Working with @CPRD and @uk_biobank Flexibility on % and hybrid working. tinyurl.com/5d57v74e @HDR_UK @geridata @jamessheppard48 @exeterageing @UoEAPEx
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GENOMIC STUDIES SHOULD USE DATA THAT REPRESENT DIVERSE HUMAN POPULATIONS!!
A cat is passionately yelling into a tiny microphone.

ALT A cat is passionately yelling into a tiny microphone.

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Research warns that women could be undergoing unnecessary surgery because of fear of #breatcancer after being told they're high risk, from genetic test results which do not take family history into account. news.exeter.ac.uk/faculty-of…
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📢📢September is #GynaecologicalCancerAwarenessMonth 👨‍⚕️👩‍⚕️#NHS professionals - learn more about screening for #LynchSyndrome 💻Get in touch to find out how #GynaeCancer #SWGenomics @SEgenomics @NorthThamesGLH @SWGenomics @NEYGenomics @CaS_Genomics @nwgmsa
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Our paper on the impact of family history on cancer risk of individuals ascertained outside of clinical channels is out today @mnweedon @carolinefwright @HarryGreenTKD @ExeterMed Influence of family history on penetrance of hereditary cancers in a p... sciencedirect.com/science/ar…
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Leigh Jackson retweeted
CatherineMWatt@cathmwatt15 Sep 2023
Replying to @DrLMJackson
@DrLMJackson I hear you.Good work. ‘Jolie effect' leading to too many mastectomies, scientists warn mol.im/a/12520597 via @Femail

'Jolie effect' leading to too many mastectomies, scientists warn

Females with mutations in the BRCA1 gene, such as Hollywood actress Angelina Jolie, and the related BRCA2 gene, are at greater risk of breast cancer.

dailymail.com
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Leigh Jackson retweeted
James Fasham@JamesFasham15 Sep 2023
Context matters when interpreting genetic test results Testing without considering this risks harm @DrLMJackson @carolinefwright @mnweedon @bethan_rimmer (@ExeterMed) using @uk_biobank + comment from @tischkowitz #Cancer #BRCA #BreastCancer theguardian.com/society/2023…

Consumer genetic test results ‘causing unnecessary breast cancer alarm’

Women with BRCA1 or BRCA2 gene variants may be told of higher cancer risk without accounting for family history

theguardian.com
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📢Exciting #PhD opportunity to study the epigenomics of monogenic disorders of insulin secretion. For further details see ➡️shorturl.at/oyzJR. Get in touch if you are interested. @ElkyD @GW4BioMedDTP @UniofExeter @Exeter_Diabetes @ExeterMed
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Interested in cancer susceptibility genetics, modifiers of penetrance and effects of family history? Come do a PhD with @HarryGreenTKD @carolinefwright @ChrissieThirlw1 and myself as part of the @The_MRC funded @GW4BioMedDTP. exeter.ac.uk/study/funding/a…
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Presenting an overview of @Cog_Train at #ICG2023. @Cog_Train was an educational programme to facilitate an increase global genome sequencing and analysis capacity, reduce sequencing inequality and enhance pathogen surveillance
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My first paper got published today! @DiabetologiaJnl 🧬 #T1D @ExeterMed
Daniel J Drucker@DanielJDrucker13 Jul 2023
The huge potential for ‘test and treat’ #PrecisionMedicine approaches to be used to tailor care for individuals with type 1 #diabetes #T1D @DiabetologiaJnl link.springer.com/article/10…
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