Genetics

Genetic Screening Issues



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Genetic screening is an issue that has heartbreaking reasons, heartbreaking ideas, and heavy political, racial and social consequences.

On one side of the issue, prevention of passing on terrible genetic disorders to children is an important consideration that many couples want to know about before they marry and start families. Tay Sachs is such a terrible disorder. In infant TSD, the disease progressively destroys hearing, sight, ability to swallow and causes paralysis. Death usually comes before the age of 4. Juvenile and Adult onsets of this disorder are very rare.

Tay Sachs was one of the first disorders that spurred formalized opportunities for genetic screening and counseling for couples who wanted it.

Sickle Cell Anemia was the subject of a major push in the mid 1970s to have African Americans screened in one of the most innovative and unique programs ever. College students, hairdressers and barbers, and churches were asked to help in getting every African American screened. The results were controversial when the idea of eugenics, or encouraging Black people to not have children came up. But the African American community preferred to do what it could to prevent passing on this terrible, full blown disorder. Currently, much is known about Sickle Cell Trait and the Full blown disorder because of the programs of the 1970s.

But one thing that is not known about Sickle Cell is that it has hundreds of variants that can show up in all races, especially where malarial vectors exist.

G6PD, or "Favism" is a blood enzyme deficiency which affects African Americans, Africans, South Asians, Italians and Medeterranians. The Centers For Disease Control has tried to make a standard screening and genetic counseling for this disorder, which can cause severe anemia and even death, with no success.

So, on the one side, genetic disorders can be devastating and need to be weeded out. But some genetic disorders, such as Sickle Cell Trait, are the part of our evolutionary tweaking that helps to fight an enemy of the body. Malaria, in it's most virulent form, can kill within hours. Even the less virulent strains make up one of the most debilitating and deadly killers of humans in the world. In that sense, completely eliminating the sickle cell trait's protections from malarial parasites is not the best idea.

All in all, genetic screening helps to prevent the "mistakes" in our evolutionary tweaking, where the genetic "solution" is as deadly as the environmental enemy that the mutation is trying to protect us from. For work to progress toward keeping the good part of the "solution" and eliminating the devastating "mistakes", genetic screening is the key.

Tay Sachs, March Of Dimes




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