The document discusses genetic screening and the increasing ability to identify genetic disorders and defects before or soon after birth. It notes that while screening newborns for certain genetic diseases has been implemented for decades, new technologies like genome sequencing are enabling the detection of thousands of genetic conditions. However, this also raises complex issues about how to manage the information obtained and ensure support is available for individuals and families affected by genetic disorders. The long-term implications of an almost perfect ability to identify genetic predispositions are uncertain and will require ongoing discussion around ethical, legal and social issues.

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¯ mdzvi@technion.ac.il
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2. The Problem With an Almost-
Perfect Genetic World
Nov. 2005

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5. 2010
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6. <---
Natural history <---
Recurrence risk <---

7. 3-5% -
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•

8. 20% - Single gene defect –
5% -
*
- *

9. 5% -
Y

10. Jan. 17, 1994

11. 2003
DNA : ~ 30,000 genes
RNA: at least 100,000 transcripts?
Proteins: millions

12. Haemophilia Peptic ulcer
Osteogenesis imperfecta Diabetes
Duchenne Club foot
muscular dystrophy Pyloric stenosis Tuberculosis
Dislocation of
hip
GENETIC ENVIRONMENTAL
Scurvy
Spina bifida
Ischaemic heart disease
Phenylketonuria
Ankylosing spondylitis
Galactosaemia

13. 30% - .1
(DS - ) 10% -
(FRAX - ) 15% -
5% -

14. 20% - .2
1% -
12% - -
7% -

15. ? 50%

16. ......

17. ....
US
X
CMV
A-CGH
SMA
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18. -
DS-
PGD - US
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19. Phenylketonuria
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Maple Syrup Urine disease-MSUD
Homocystinuria
Tyrosinaemia Type 1(Hepatorenal tyrosinemia)
Methylmalonic Acidaemia
Propionic Acidaemia
Glutaric Aciduria Type 1
Medium chain acyl-CoA dehydrogenase
deficiency
Very-long-chain acyl-CoA dehydrogenase
deficiency (VLCAD)
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Hearing screening

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Haemophilia Peptic ulcer
Osteogenesis imperfecta Diabetes
Duchenne Club foot
muscular dystrophy Pyloric stenosis Tuberculosis
Dislocation of
hip
GENETIC ENVIRONMENTAL
Scurvy
Spina bifida
Ischaemic heart disease
Phenylketonuria
Ankylosing spondylitis
Galactosaemia

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