The text is for the following question.

Uncertai...

Question

The text is for the following question.

Uncertainty about the impact of genetic variants is a hot topic as so many more people are now having genetic testing. It is a complex area and a recurring theme in the transforming genetic medicine initiative, which is building the foundations needed to make genetic medicine work. Despite that, it is clear that if we want to improve the ways we manage uncertainty in genetic testing, we need a fundamental change in how we think about genetic variants.

The most important adjustment is changing the baseline assumption about how likely a variant is to cause disease. It used to be assumed that a rare genetic variant found in someone with disease had a high chance of being involved in causing that disease until proven otherwise. In part this was because for many years gene testing was only performed in people with disease. However, once gene testing became cheap and easy we could look at the genes of many thousands of people, both with and without disease. It turns out that most rare variants do not cause disease, a study suggests. This means we have to reset our baseline: all genetic variants are considered benign until there is proof to the contrary.

This reset will profoundly influence the choices doctors and patients make. For example, entirely healthy women have surgery to remove their breasts and ovaries because they believe a variant of uncertain significance (vus) puts them at higher risk of developing cancer. In fact, it is unlikely that such a variant is having an impact on their cancer risk.

The passage could be best summarized as ...

S. Ratna · Accepted Answer

Jawaban yang benar adalah We need to change the way we think about genetic variation. Genetic variants that cause disease are rare, but this does not mean that all rare variants cause disease.  We should start managing uncertain variants as harmless unless there is proof to the contrary.

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"Uncertainty about the impact of genetic variants is a hot topic as so many more people are now having genetic testing. We need a fundamental change in how we think about genetic variants."

"The most important adjustment is changing the baseline assumption about how likely a variant is to cause disease. It used to be assumed that a rare genetic variant found in someone with a disease had a high chance of being involved in causing that disease until proven otherwise. This means we have to reset our baseline: all genetic variants are considered benign until there is proof to the contrary."

Maka dapat disimpulkan bahwa kita perlu mengubah cara  berpikir tentang variasi genetik. Varian genetik yang menyebabkan penyakit jarang terjadi, tetapi ini tidak berarti bahwa semua varian langka menyebabkan penyakit. Kita harus mulai mengelola varian yang tidak pasti sebagai tidak berbahaya kecuali ada bukti sebaliknya.

Jadi, jawaban yang benar adalah We need to change the way we think about genetic variation. Genetic variants that cause disease are rare, but this does not mean that all rare variants cause disease.  We should start managing uncertain variants as harmless unless there is proof to the contrary.

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