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

International Symposium on Bioethics Genetic Testing of Children and Confidentiality of Their Genetic Data Eiji Maruyama, Kobe University Mariko Tamai, Shinshu University

Problems 1 . I s i t a l l o w e d , i n y o u r c o u n t r y , t o p e r f o r m a g e n e t i c t e s t o f a m i n o r p a t i e n t s u f f e r i n g f r o 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 o 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 o p h y o n l y w i t h t h e , w h e n t h e o n l y p u r p o s e o f t h e c o n s e n t o f h i s p a r e n t s t e s t i s m a k i n g i t p o s s i b l e t o c o n d u c t p r e n a t a l d i a g n o s i s o f t h e f e t u s w h o , i f b o r n , w i l l b e h i s s i b l i n g , o r c a r r i e r t e s t i n g o f h i s f e m a l e ( a l r e a d y b o r n ) s i b l i n g s o r a u n t s ? I f i t i s a l l o w e d , w h a t j u s t i f i c a t i o n c a n b e o f f e r e d f o r i t ? 2 . I f t h e g e n e t i c t e s t o 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 o n e , a n d u s i n g h i s g e n e t i c i n f o r m a t i o n , i t i s p o s s i b l e t o c a r r y o u t s u c h p r e n a t a l d i a g n o s i s o 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 o n l y w i t h t h e c o n s e n t o f h i s p a r e n t s ? I f s o , o 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 ?

Principles 1 . I n f o r m e d c o n s e n t I n o r d e r t o c a r r y o u t a g e n e t i c t e s t , i n f o r m e d c o n s e n t m u s t b e o b t a i n e d f r o m t h e i n d i v i d u a l t o b e t e s t e d . I f t h e p a t i e n t i s a y o u n g c h i l d a n d i n c o m p e t e n t t o g i v e h i s o w n c o n s e n t , p r o x y c o n s e n t m u s t b e o b t a i n e d f r o 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 o r i z e d t o g i v e p r o x y c o n s e n t , a s t h e y a r e e x p e c t e d t o a c t s o a s t o f u r t h e r t h e b e s t i n t e r e s t o f t h e i r c h i l d . T h e r e f o r e , t h e i r a u t h o r i t y t o g i v e p r o x y c o n s e n t f o r t h e i r c h i l d i s l i m i t e d t o 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 o m t h e p r o c e d u r e .

Principles 2 . C o n f i d e n t i a l i t y o f M e d i c a l I n f o r m a t i o n T h e g e n e t i c i n f o r m a t i o n o b t a i n e d f r o m t h e g e n e t i c t e s t i s c o n f i d e n t i a l i n f o r m a t i o n o f t h e t e s t e d i n d i v i d u a l . I t s h o u l d b e d i s c l o s e d t o h i m a s l o n g a s h e w a n t s t o b e t o l d . I t m a y b e d i s c l o s e d t o h i s r e l a t i v e s o r f a m i l y m e m b e r s i f h e c o n s e n t s i t b e i n g d i s c l o s e d . I t m a y n o t d i s c l o s e d t o t h e m a g a i n s t h i s w i l l .

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 0 s a t t h a t t i m e , h a d t w o 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 o p h y . B o t h w e r e d i a g n o 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 o p h y ( D M D ) b a s e d o n t h e i r n e u r o l o g i s t ’ s c l i n i c a l o b s e r v a t i o n s . T h e o l d e r b o y w a s a 1 4 - y e a r - o l d 8 t h g r a d e r . T h e y o u n g e r o n e w a s a n 1 1 - y e a r - o 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 o p i n g f o 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 0 t h w e e k o f p r e g n a n c y .

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 o k n o 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 o u l d b e t o o m u c h f o r h e r t o r a i s e a n o 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 o 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 o n s i d e r a t i o n s , s h e d e c i d e d t o v i s i t P r o f e s s o r T a m a i ’ s d e p a r t m e n t . S h e h a d n o t t o l d e i t h e r o f t h e b o y s a b o u t h e r p r e g n a n c y . I n o r d e r t o f i n d o 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 o i n v e s t i g a t e t h e g e n e s o f b o t h b o y s t o i d e n t i f y t h e s p e c i f i c t y p e o f m u t a t i o n .

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 o 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 o f m u t a t i o n o f d y s t r o p h i n g e n e ; d e l e t i o n , d u p l i c a t i o n a n d p o i n t m u t a t i o n . M o r e t h a n h a l f o f a l l t h e c a s e s a r e d u e t o d e l e t i o n . I f t h e i r m u t a t i o n t y p e w a s d e l e t i o n , t h e f e t u s c o 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 o r m a t i o n . I n o r d e r t o o b t a i n t h e i r g e n e t i c i n f o r m a t i o n , b l o o d s a m p l e s o f b o t h b o y s h a d t o b e t a k e n .

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 o t w a n t t o t e l l h e r b o y s a b o 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 o f t h e i r g e n e t i c i n f o r m a t i o 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 o t h e o 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 o b o y s . S h e h a d t o l d t h e b o y s o n l y t h a t t h e y w o u l d g o t o t h e h o s p i t a l f o r s o m e t e s t s . A f t e r s o m e g e n e r a l c h e c k u p s , b l o o d s a m p l e s w e r e t a k e n f r o m t h e m w i t h o 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 o s e o f t h e t e s t .