Why consider a genetic or genomic test?

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1 fertility expert(s) answered this question

Answer from: Douglas Lester, PhD, MSc, BSc (Hons)

Geneticist, Co-Founder & Chief Scientific Officer Fertility Genomics
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Single gene genetic testing is for couples from different ethnic backgrounds who are considering genetic carrier screening. There’s a high prevalence of sickle cell in Afro-Caribbean or Tay-Sachs disease in people of Ashkenazi Jewish and Eastern European Jewish ancestry; they would need genetic testing. With genetic testing, you’re screening one particular gene. You’re looking for one sickle cell gene, cystic fibrosis gene, Tay-Sachs gene, or a specific infertility gene.

But genomic testing is testing all of your genes, all 22,000 genes. That’s what our company Fertility Genomics does; we get the sequence for all 22,000 genes. We think couples should be considered if they’ve been diagnosed with unexplained infertility and doctors can’t find a reason for male or female infertility. We think these couples would benefit from coming to our company, spitting in a tube. I extract the DNA, sequence all the genes, and if it’s a male, we look at all the male genes; if it’s a female, we look at all the female ovum genes. From this, we can see if there’s a variation that is likely to stop that gene from working, male or female. Then we can help advise in the next assisted method and assisted conception. For example, IVF is going to continually feel for you, go to the direct sperm injection method, or there’s even enhanced sperm injection method where you add a chemical in, and that boosts the chances of fertilization. Some genes need that.

To sum up, genetic testing looks at one gene, and genomic testing looks at all 22,000 genes.

About this question:

Genetic and genomic tests - why do I need them?

Genomic testing is a method used done when it is suspected that you or your future offspring may have symptoms of a specific condition or syndrome. Genomic tests look at all your genes rather than a specific one.

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