Should We Know It Or Should Not?

-Individual genome testing reveals every disease risk, even if no treatment available-

Kiyotaka ISHIKAWA

What would you do if your baby was revealed the risk of mental disabilities in the distant future; for example, a high probability of Alzheimer’s at his 50s? Parents tends to answer that they want to know every disease risk with their children even if no treatment available while a majority of doctors, researchers, and bioethicists who engage in genetic testing say they should be informed only results which could be immediately treatable. 

Genetic test available for everyone

The mapping of the human genome completed a decade ago costs $2.7 billion, but now an individual’s whole-genome sequencing (WGS) is available from $7,500 and will be provided at a much less cost in the future. A teaspoon of blood is all you need for the test that read every bit of information in your genome and find any mistakes in the basic arrangement of genes that might cause diseases. Moreover, some researchers reported that the pre-born DNA test was successfully operated by analyzing a fetus’ DNA from cells gathered from the mother’s blood.  

The DNA dilemma

Most parents who experienced Parkinson’s disease, a progressive neurologic disease caused by genetical defects, amongst their relatives by blood tend to want the WGS for their children even if no effective treatment has developed (TIME, issued December 24 2012). In addition, the genetic testing might bring about incidental findings which the clients were not looking for. There is a serious argument for doctors to decide how much to tell patients or their parents especially in the case of an incurable adult-onset disease such as Alzheimer’s, concerning about a lifelong burden on the clients and their family; if a mother learnt her girl carries a mutation that increase ovarian cancer, she would feel much responsibility of her own blood. 

Getting along with the results

A common response from doctors is that one possible solution to the problem is to do no harm, which means patients would be better to have only a part of results that could be acted on immediately. A new Web-based venture called My46 offers a online service that store genome sequencing results and chose what people want to know and when. For example, parents can learn any risks of childhood diseases with their baby distinguished from unclear results and increased risks of adult-onset diseases amongst a whole data on his genome. If any adult diseases are expected at a specific stage of his life, he and his family will be warned about them in advance so that they can reduce the risk and prepare for presenting symptoms.