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The JC letters page, 18th May 2018

Samantha Neumann, MS, CGC, Rona Hart, Bina Gardens, J D Norman, William Philpott, David Lederman, Dr Anthony Isaacs, Betty Bloom and Michael Wegier and Simon Johnson share their views with JC readers

May 18, 2017 14:25
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6 min read

Parkinson's risk

In last week’s article on why Jews are more at risk of Parkinson’s disease and research towards a cure, the woman interviewed said she doesn’t see the point in presymptomatic genetic testing.

As a genetic counsellor, I try to help patients learn about their various options from genetic testing and there was one very important point left out of the article.

First-degree relatives of an affected individual have a 50 per cent chance of inheriting the same genetic mutation. Knowing this, allows the option of pre-implantation genetic diagnosis (PGD). PGD is the creation of an embryo via in vitro fertilisation, biopsying a few cells, and testing the DNA for a heritable genetic disease with the purpose of avoiding passing on a condition to the next generation.

For late onset neurodegenerative diseases, like PD, the current technologies allow for blinded testing of embryos so that future parents do not have to know their disease status if they are presymptomatic. In 2016, LRRK2-related Parkinson’s Disease was approved for PGD in the UK. Although most individuals will not be diagnosed with Parkinson’s Disease until after they have had children, PGD provides a potential opportunity for their children to be reassured this will not continue for future generations.