[PPT] - International Symposium on Bioethics Genetic Testing of Children and PowerPoint Presentation

SLIDE 1

International Symposium on Bioethics Genetic Testing of Children and Confidentiality of Their Genetic Data

Eiji Maruyama, Kobe University Mariko Tamai, Shinshu University

SLIDE 2

Problems

1 . I s i t a l l

w

e d , i n y

u

r c

u

n t r y , t

p

e r f

r

m a g e n e t i c t e s t

f

a m i n

r

p a t i e n t s u f f e r i n g f r

m

X

l

i n k e d r e c e s s i v e g e n e t i c d i s

r

d e r s u c h a s D u c h e n n e m u s c u l a r d y s t r

p

h y

n

l y w i t h t h e

c

n

s e n t

f

h i s p a r e n t s

, w h e n t h e

n

l y p u r p

s

e

f

t h e t e s t i s m a k i n g i t p

s

s i b l e t

c
n

d u c t p r e n a t a l d i a g n

s

i s

f

t h e f e t u s w h

,

i f b

r

n , w i l l b e h i s s i b l i n g ,

r

c a r r i e r t e s t i n g

f

h i s f e m a l e ( a l r e a d y b

r

n ) s i b l i n g s

r

a u n t s ? I f i t i s a l l

w

e d , w h a t j u s t i f i c a t i

n

c a n b e

f

f e r e d f

r

i t ? 2 . I f t h e g e n e t i c t e s t

f

t h e p a t i e n t h a s a l r e a d y b e e n d

n

e , a n d u s i n g h i s g e n e t i c i n f

r

m a t i

n

, i t i s p

s

s i b l e t

c

a r r y

u

t s u c h p r e n a t a l d i a g n

s

i s

r

c a r r i e r t e s t i n g , m a y i t b e u s e d

n

l y w i t h t h e c

n

s e n t

f

h i s p a r e n t s ? I f s

,
n

w h a t b a s i s i s i t p e r m i s s i b l e ?

SLIDE 3

Principles

1 . I n f

r

m e d c

n

s e n t I n

r

d e r t

c

a r r y

u

t a g e n e t i c t e s t , i n f

r

m e d c

n

s e n t m u s t b e

b

t a i n e d f r

m

t h e i n d i v i d u a l t

b

e t e s t e d . I f t h e p a t i e n t i s a y

u

n g c h i l d a n d i n c

m

p e t e n t t

g

i v e h i s

w

n c

n

s e n t , p r

x

y c

n

s e n t m u s t b e

b

t a i n e d f r

m

h i s p a r e n t s . P a r e n t s a r e a u t h

r

i z e d t

g

i v e p r

x

y c

n

s e n t , a s t h e y a r e e x p e c t e d t

a

c t s

a

s t

f

u r t h e r t h e b e s t i n t e r e s t

f

t h e i r c h i l d . T h e r e f

r

e , t h e i r a u t h

r

i t y t

g

i v e p r

x

y c

n

s e n t f

r

t h e i r c h i l d i s l i m i t e d t

t

h e c a s e s w h e r e t h e c h i l d w i l l b e n e f i t f r

m

t h e p r

c

e d u r e .

SLIDE 4

Principles

2 . C

n

f i d e n t i a l i t y

f

M e d i c a l I n f

r

m a t i

n

T h e g e n e t i c i n f

r

m a t i

n
b

t a i n e d f r

m

t h e g e n e t i c t e s t i s c

n

f i d e n t i a l i n f

r

m a t i

n
f

t h e t e s t e d i n d i v i d u a l . I t s h

u

l d b e d i s c l

s

e d t

h

i m a s l

n

g a s h e w a n t s t

b

e t

l

d .

I t m a y b e d i s c l

s

e d t

h

i s r e l a t i v e s

r

f a m i l y m e m b e r s i f h e c

n

s e n t s i t b e i n g d i s c l

s

e d . I t m a y n

t

d i s c l

s

e d t

t

h e m a g a i n s t h i s w i l l .

SLIDE 5

Professor Tamai’s Case

(The following case was posted on her home page and, with her permission, is quoted here with some slight revisions.) T h e c l i e n t , i n h e r 4 s a t t h a t t i m e , h a d t w

m

a l e c h i l d r e n w i t h m u s c u l a r d y s t r

p

h y . B

t

h w e r e d i a g n

s

e d a s D u c h e n n e m u s c u l a r d y s t r

p

h y ( D M D ) b a s e d

n

t h e i r n e u r

l
g

i s t ’ s c l i n i c a l

b

s e r v a t i

n

s . T h e

l

d e r b

y

w a s a 1 4

y

e a r

l

d 8 t h g r a d e r . T h e y

u

n g e r

n

e w a s a n 1 1

y

e a r

l

d 5 t h g r a d e r . T h e c l i e n t b e c a m e p r e g n a n t u n e x p e c t e d l y . W h e n s h e v i s i t e d t h e c l i n i c a l g e n e t i c d e p a r t m e n t h

p

i n g f

r

a h e a l t h y b a b y , s h e w a s i n t h e 1 t h w e e k

f

p r e g n a n c y .

SLIDE 6

Professor Tamai’s Case

(The following case was posted on her home page and, with her permission, is quoted here with some slight revisions.) T h e c l i e n t w a n t e d t

k

n

w

i f t h e f e t u s h a d D M D . S h e s a i d t h a t i t w

u

l d b e t

m

u c h f

r

h e r t

r

a i s e a n

t

h e r c h i l d w i t h D M D s i n c e s h e a l r e a d y h a d t w

w

i t h t h e d i s e a s e . A f t e r c a r e f u l c

n

s i d e r a t i

n

s , s h e d e c i d e d t

v

i s i t P r

f

e s s

r

T a m a i ’ s d e p a r t m e n t . S h e h a d n

t

t

l

d e i t h e r

f

t h e b

y

s a b

u

t h e r p r e g n a n c y . I n

r

d e r t

f

i n d

u

t i f t h e f e t u s h a d D M D , i t w a s n e c e s s a r y t

i

n v e s t i g a t e t h e g e n e s

f

b

t

h b

y

s t

i

d e n t i f y t h e s p e c i f i c t y p e

f

m u t a t i

n

.

SLIDE 7

Professor Tamai’s Case

(The following case was posted on her home page and, with her permission, is quoted here with some slight revisions.)

A s a c a u s e

f

t h e D M D , t h e r e a r e t h r e e t y p e s

f

m u t a t i

n
f

d y s t r

p

h i n g e n e ; d e l e t i

n

, d u p l i c a t i

n

a n d p

i

n t m u t a t i

n

. M

r

e t h a n h a l f

f

a l l t h e c a s e s a r e d u e t

d

e l e t i

n

. I f t h e i r m u t a t i

n

t y p e w a s d e l e t i

n

, t h e f e t u s c

u

l d b e g e n e t i c a l l y t e s t e d u s i n g t h e i r g e n e t i c i n f

r

m a t i

n

. I n

r

d e r t

b

t a i n t h e i r g e n e t i c i n f

r

m a t i

n

, b l

d

s a m p l e s

f

b

t

h b

y

s h a d t

b

e t a k e n .

SLIDE 8

Professor Tamai’s Case

(The following case was posted on her home page and, with her permission, is quoted here with some slight revisions.)

T h e c l i e n t d i d n

t

w a n t t

t

e l l h e r b

y

s a b

u

t h e r p r e g n a n c y a n d t h e n e c e s s i t y

f

t h e i r g e n e t i c i n f

r

m a t i

n

. O n e w e e k a f t e r t h e f i r s t v i s i t , s h e c a m e t

t

h e

u

t p a t i e n t d e p a r t m e n t w i t h h e r t w

b
y

s . S h e h a d t

l

d t h e b

y

s

n

l y t h a t t h e y w

u

l d g

t
t

h e h

s

p i t a l f

r

s

m

e t e s t s . A f t e r s

m

e g e n e r a l c h e c k u p s , b l

d

s a m p l e s w e r e t a k e n f r

m

t h e m w i t h

u

t t e l l i n g t h e m t h e n a t u r e a n d p u r p

s

e

f

t h e t e s t .

SLIDE 9

Question 1

F

r

t h e p u r p

s

e

f

p r e n a t a l d i a g n

s

i s , i s i t a c c e p t a b l e i n y

u

r c

u

n t r y t

t

a k e a b l

d

s a m p l e f r

m

t h e p a r e n t s '

t

h e r c h i l d r e n ( w h

a

r e a l r e a d y s u f f e r i n g f r

m

t h e d i s e a s e ) , u s e t h a t b l

d

s a m p l e t

c

a r r y

u

t a n e x a m i n a t i

n

f

r

g e n e t i c m u t a t i

n

r e l a t e d t

t

h e d i s e a s e , t h e n u s e t h e r e s u l t i n g g e n e t i c i n f

r

m a t i

n

t

a

v

i

d g i v i n g b i r t h t

a

n

t

h e r c h i l d h a v i n g t h e s a m e d i s e a s e ? S u p p

s

e t h e c h i l d i s 1 4 , 1 1 , 7

r

2 y e a r

l

d . D

e

s t h e d e g r e e

f

y

u

n g n e s s

f

t h e c h i l d a f f e c t y

u

r a n s w e r ?

SLIDE 10

Professor Tamai’s Case

A f t e r t a k i n g t h e b l

d

f r

m

t h e b

y

s , t h e i n f

r

m a t i

n
f

t h e i r g e n e m u t a t i

n

w a s

b

t a i n e d . I t i d e n t i f i e d t h e m u t a t i

n

a s d e l e t i

n

. T h e n m y c l i e n t i n t h e 1 5 t h w e e k

f

p r e g n a n c y h a d a n a m n i

c

e n t e s i s . T h e c h r

m
s
m

a l t e s t d e t e r m i n e d t h e f e t u s w a s f e m a l e . A s t h e X

l

i n k e d r e c e s s i v e d i s

r

d e r u s u a l l y a p p e a r s

n

l y i n a m a l e p e r s

n

( a f e m a l e f e t u s h a s 5 p e r c e n t c h a n c e

f

b e i n g a c a r r i e r

f

t h e d i s

r

d e r ) , a n d t h e r i s k

f

t h e f e t u s h a v i n g t h e D M D d e c r e a s e d t

a

n e g l i g i b l e l e v e l , s h e c

n

t i n u e d h e r p r e g n a n c y a n d g a v e b i r t h t

a

n a p p a r e n t l y h e a l t h y g i r l . T h e b

y

s g e n e t i c i n f

r

m a t i

n

w a s n

t

u s e d i n t h i s s t a g e . H

w

e v e r , w h e n t h e g i r l g r

w

s u p a n d i f s h e w a n t s t

k

n

w

b e f

r

e h e r m a r r i a g e w h e t h e r s h e c a r r i e s t h e s a m e m u t a t i

n

, t h e i n f

r

m a t i

n

k e p t i n e a c h b r

t

h e r ' s f i l e w i l l b e n e e d e d .

SLIDE 11

Question 2

I f , 2 y e a r s l a t e r , t h e s i s t e r d e c i d e s t

f

i n d

u

t w h e t h e r s h e i s a c a r r i e r

f

t h e d y s t r

p

h i n g e n e m u t a t i

n

, s h

u

l d h e r b r

t

h e r ' s g e n e t i c i n f

r

m a t i

n

b e m a d e a c c e s s i b l e t

h

e r ( h e r d

c

t

r

s ) w i t h

u

t h e r b r

t

h e r s ' i n f

r

m e d c

n

s e n t ? I n t h e m e a n w h i l e , h

w

s h

u

l d t h e p a r e n t s a n d d

c

t

r

s b e h a v e t

w

a r d h e r r e g a r d i n g t h i s m a t t e r , a n t i c i p a t i n g s h e , s

m

e d a y , w i l l b e c

m

e t

l

i k e t

k

n

w

h e r

w

n c a r r i e r s t a t u s

f

t h e b r

t

h e r s ’ d i s e a s e .

SLIDE 12

My Tentative Answer

T e s t i n g i n c

m

p e t e n t m i n

r

s f

r

t h e s

l

e p u r p

s

e

f

p r e n a t a l d i a g n

s

i s

r

c a r r i e r t e s t i n g i s p e r m i s s i b l e

n

l y i f 1 . T h e m i n

r

i s a s y m p t

m

a t i c p a t i e n t . 2 . T e s t i n g c a r r i e s

n

l y m i n i m a l r i s k t

t

h e m i n

r

3 . T h e m i n

r

h i m s e l f d

e

s n

t

i n d i c a t e h i s

p

p

s

i t i

n

t

h

i s b e i n g s u b j e c t e d t

t

h e t e s t a f t e r g i v e n a d e q u a t e i n f

r

m a t i

n

i n a c c

r

d a n c e w i t h h i s p

w

e r

f

u n d e r s t a n d i n g . 4 . T h e m i n

r

h a s a n i n t i m a t e r e l a t i

n

w i t h t h e p e r s

n

w h

w

i l l u t i l i z e t e s t r e s u l t 5 . T h e r e i s p r a c t i c a l l y n

a

l t e r n a t i v e t

t

h e t e s t i n g

f

t h e m i n

r

. 6 . E t h i c s c

m

m i t t e e a p p r

v