Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic...
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Transcript of Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic...
![Page 1: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/1.jpg)
Genetics and Dementia – what do relatives want to know?
Candy CooleyNHS National Genetic Awareness
Lead
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 2: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/2.jpg)
Aims of this session:
• Review current understanding of links between dementia and genes
• Consider how the health professional can identify those at increased risk
• Discuss the implications for the family
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 3: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/3.jpg)
“ From past generations we receive a few strands of
DNA, sometimes a heritage, a memory of one
sort or another”Dan Pollen M.D.
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 4: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/4.jpg)
• Dementia affect around 800,000 people in the UK
• Causative factors include: age, genes, environmental factors, lifestyle and overall general health
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 5: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/5.jpg)
Most dementia is not inherited• Age• Acquired immunodeficiency syndrome• Central nervous system infections• Vascular disease• Brain tumours• Drug toxicity• Syphilis• Metabolic or nutritional deficiencies
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 6: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/6.jpg)
So how might you identify a family in which there is an inherited condition?
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 7: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/7.jpg)
Diag = Age diagnosed
Diag. 57
Diag. 50 Diag. 58
Diag. 52= Female
= Male
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 8: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/8.jpg)
Is there a pattern of people with the condition in this family?
Diag. 57
Diag. 50 Diag. 58
Diag. 52
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 9: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/9.jpg)
This is suggestive of a type of inheritance called Autosomal Dominant
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 10: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/10.jpg)
Parents
Autosomal dominant inheritance where one parent has the condition
Sperm or eggs
Has condition
![Page 11: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/11.jpg)
Parents
Sperm or eggs
At conception
Autosomal dominant inheritance where one parent has the condition
![Page 12: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/12.jpg)
Parents
Sperm or eggs
At conception
Autosomal dominant inheritance where one parent has the condition
Has the conditionHas the conditionDoes not have the condition
Does not have the condition
![Page 13: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/13.jpg)
An example of an Autosomal Dominant condition
Familial Alzheimer’s disease (FAD) –Amyloid precursor protein (APP)–Presenilin 1 (PSEN1) –Presenilin 2 (PSEN2)
If an alteration is present in only one of the two copies of these genes inherited from a person's parents, the person will inevitably develop that form of early-onset Alzheimer's.
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 14: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/14.jpg)
Other Inherited forms of dementia
What if you see an individual with a condition known to be inherited but no-one else in the family has it?
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 15: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/15.jpg)
Tay Sachs
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 16: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/16.jpg)
Tay Sachs
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 17: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/17.jpg)
Tay Sachs
? ?
? ?
? ?
?
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 18: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/18.jpg)
Parents
Sperm or eggs
Autosomal recessive inheritance where both parents are carriers
Carrier for the
condition
Carrier for the
condition
![Page 19: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/19.jpg)
Parents
Sperm or eggs
At conception
Autosomal recessive inheritance where both parents are carriers
Carrier for the
condition
Carrier for the
condition
![Page 20: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/20.jpg)
Parents
Sperm or eggs
At conception
Autosomal recessive inheritance where both parents are carriers
Carrier for the
condition
Carrier for the
condition
Does not have the condition, non-
carrier
Carrier for the
condition
Has the condition
Carrier for the
condition
![Page 21: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/21.jpg)
Examples of Autosomal Recessive inheritance – causing dementia in children
• Ceroid lipofucinosis• Gaugher disease III• Lafora disease• Neimann-Pick type C• Sandoff disease• Late onset Tay-Sachs disease
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 22: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/22.jpg)
Sporadic Alzheimer’s disease
Genetic alterations known to be associated with sporadic (late onset) dementia
• Apolipoprotein E – variants (APOE – ε2, ε3, ε4)
Recent Research • MS4A, CD2AP, CD33 & EPHA1 • BIN1 & ABCA7
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 23: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/23.jpg)
APOE –ε4
One in 100 people between the ages of 65 and 70 have a form of dementia, compared to one in six people over the age of 80.
• 1 copy – double or triples lifetime risk• 2 copies – increases risk five-fold
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 24: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/24.jpg)
Other causes of dementia
• Frontotemporal dementia – 20-30% hereditary
• Adrenoleukodystrophy – X linked• Kearns-Sayres syndrome - Mitochondrial• Inborn errors in metabolism• Huntington disease
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 25: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/25.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 26: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/26.jpg)
General clues
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2012 NHS National Genetics Education and Development Centre
• Multiple closely related people with the same condition.
• Disorders which occur at a younger age than usual (eg colon cancer, breast cancer, dementia).
• Three or more pregnancy losses• Medical problems in children of parents related
by blood.• Congenital anomalies, dysmorphic features
and developmental delay.
![Page 27: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/27.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 28: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/28.jpg)
What information should you collect?
•Information depends on the context and reason for collecting it:
•Establish biological relationships•Clarify the medical conditions that people have
•3 generations
•For each person:•Full name•Date of birth (or age)•Date of death (or age died)•Medical information (age at diagnosis)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 29: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/29.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
Drawing a family tree
Male
Female
Person whose sex is unknown
PregnancyP
Marriage / Partnership(horizontal line)
Parents and Siblings
Offspring (vertical line)
Affected Male & Female
Carrier Male & Female
Partnership that has ended
/
X weeks
Miscarriage
![Page 30: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/30.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 31: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/31.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 32: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/32.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 33: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/33.jpg)
www.geneticseducation.nhs.ukGenetics and genomics for healthcare
www.geneticseducation.nhs.uk© 2014 NHS National Genetics and Genomics Development Centre
![Page 34: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/34.jpg)
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
Implications for the family
• “My feeling is I’d only want to know if there’s something I can do about it”
• “For me, it’s pretty scary when I forget where I parked my car. I think, ‘Here it is, here I go.”
![Page 35: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/35.jpg)
• Reassure– Knowledge of the condition– Local/national referral guidelines
• Refer– To the GP or clinical genetics service
• Seek further advice– Trusted sources of information– Clinical Genetics Department On-Call Service
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
![Page 36: Genetics and Dementia – what do relatives want to know? Candy Cooley NHS National Genetic Awareness Lead Genetics and genomics for healthcare .](https://reader036.fdocuments.in/reader036/viewer/2022062516/56649da15503460f94a8dfa8/html5/thumbnails/36.jpg)
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• Clinical Genetics Services
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre
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www.geneticseducation.nhs.uk
Genetics and genomics for healthcarewww.geneticseducation.nhs.uk
© 2014 NHS National Genetics and Genomics Education Centre