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A A Cas Case i in Genomic M c Medicine
Benjamin Bell February 2018
Rapid prog
- gres
ession
- n in genom
- mic med
A A Cas Case i in Genomic M c Medicine Benjamin Bell February - - PowerPoint PPT Presentation
A A Cas Case i in Genomic M c Medicine Benjamin Bell February - - PowerPoint PPT Presentation
A A Cas Case i in Genomic M c Medicine Benjamin Bell February 2018 Rapid prog ogres ession on in genom omic med edicine Rapid prog ogres ession on in genom omic med edicine Rapid prog ogres ession on in genom omic med
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SLIDE 3
Rapid prog
- gres
ession
- n in genom
- mic med
edicine…
SLIDE 4
Rapid prog
- gres
ession
- n in genom
- mic med
edicine…
SLIDE 5
Rapid prog
- gres
ession
- n in genom
- mic med
edicine…
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Jac ack, ag aged 4 4 – voted as having the world’s best genome*
*by my family
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Case
- Infant male with developmental delay – rare
disease suspected
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Case
- Infant male with developmental delay – rare
disease suspected
- Referred for whole genome sequencing
(WGS) - trio testing is most informative
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Case
- Infant male with developmental delay – rare
disease suspected
- Referred for whole genome sequencing
(WGS) - trio testing is most informative
- Child born from a donated ovum
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Case
- Infant male with developmental delay – rare
disease suspected
- Referred for whole genome sequencing
(WGS) - trio testing is most informative
- Child born from a donated ovum
- Fertility clinic denies contact to donor
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Case
- Infant male with developmental delay – rare
disease suspected
- Referred for whole genome sequencing
(WGS) - trio testing is most informative
- Child born from a donated ovum
- Fertility clinic denies contact to donor
- Human Fertilisation and Embryology
Authority (HFEA) regulates
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Eth thical I Issues
- Donor has no social relationship with child
- Would a diagnosis change anything?
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Eth thical I Issues
- Donor has no social relationship with child
- Would a diagnosis change anything?
- Donor was not asked if she would be would be willing to help
- Consent should be specific – we can’t assume her wishes
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Eth thical I Issues
- Donor has no social relationship with child
- Would a diagnosis change anything?
- Donor was not asked if she would be would be willing to help
- Consent should be specific – we can’t assume her wishes
- Asked about notification of any genetic disease – donor declined
- Too broad for an advanced decision?
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Eth thical I Issues
- Donor has no social relationship with child
- Would a diagnosis change anything?
- Donor was not asked if she would be would be willing to help
- Consent should be specific – we can’t assume her wishes
- Asked about notification of any genetic disease – donor declined
- Too broad for an advanced decision?
- Wider implications for donor and other offspring
- Could they become patients too?
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My c y conclusions
- Alert donor to situation
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My c y conclusions
- Alert donor to situation
- Consent process should be
updated
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My c y conclusions
- Alert donor to situation
- Consent process should be
updated
- WGS could be included in
donor screening
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My c y conclusions
- Alert donor to situation
- Consent process should be
updated
- WGS could be included in
donor screening
- Privacy of genetic data
may need to be flexible
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Thank you – any questions?
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