Test could screen for more than 400 childhood diseases

WORLD SCIENCE

A new ge­net­ic test could be used rou­tinely by doc­tors to screen for 448 se­vere child­hood dis­eases in cou­ples be­fore they have chil­dren, ac­cord­ing to a stu­dy.

The test checks for re­ces­sive dis­eases—conditions caused by muta­t­ions that gen­er­ally don’t af­fect the par­ents but can af­fect their chil­dren if both par­ents are car­ri­ers. The test is de­signed to tell par­ents whe­ther this risk exists.

Com­bined with ge­net­ic coun­sel­ing, the tech­nol­o­gy may re­duce the in­ci­dence of se­vere re­ces­sive child­hood dis­eases and help speed up di­ag­no­sis of these dis­or­ders in new­borns, re­search­ers said.

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