The brave new world of genetics is a fraught business, despite the promise of scientific progress. And, like the ambitious and expensive program launched this week, tens of thousands of newborns will undergo “genome sequencing” over the next few years to reveal the genes they have inherited. Parents should be careful.
This aim is laudable. The idea is to identify mutations that predispose to genetic diseases, with the hope that if detected early, the consequences can be more easily avoided. However, in an article in the British Medical Journal earlier this year, five prominent British genetic researchers challenged these putative benefits and called attention to the harms that could result.
First, highly efficient and effective screening programs already exist to detect common genetic diseases (such as sickle cell anemia, hypothyroidism, and cystic fibrosis), and they It is diagnosed by analyzing a drop of blood obtained from a heel prick. . The proposed program aims to further elaborate on this by identifying specific genetic mutations that are responsible for an additional 200 rare genetic diseases.
This is problematic in two main ways. First, the chemical composition of genes varies widely, making it difficult to confirm whether detected abnormalities are truly “abnormal.” Even so, it is impossible to predict with certainty whether a baby found to have the mutation will develop the genetic disease in question.
The result is great overall suffering. Parents, traumatized to learn that their seemingly healthy child may have some obscure genetic disease, need more help to find out if that’s really the case. It is necessary to conduct an inspection. And if the verdict is inconclusive, the children themselves will be adversely affected and grow up with the inevitable anxiety that this Sword of Damocles will hang over them. So while parents may be initially attracted to the idea of participating in a program, it’s perfectly reasonable to respond with a “thank you, but no thanks” when approached. I would.
The hidden reasons for IBS
In the wake of recent comments about the frustration of people suffering from irritable bowel syndrome in identifying which of the many possible causes is the culprit, I thought this might be helpful to others. Some people are hopeful and share their experiences.
First, the characteristic colic-like abdominal pain and impaired bowel function may be a “hidden” side effect of some drugs, especially the acid suppressant omeprazole. “My doctor said there is no downside to continuing to take it indefinitely,” said a reader from Colorado. However, his research suggested that this is not the case, as reducing the acidity of the stomach contents allows microorganisms that would otherwise be destroyed to move into the large intestine. This can cause a mild inflammation known as microscopic colitis. All of his symptoms resolved within 1 month of discontinuing omeprazole.
Second, a Berkshire woman obsessed with having the “wrong kind” of gut bacteria is grateful for an article in this paper that alerted her to the causes of “noxious winds and explosive loose stools.” A few months ago, Telegraph journalist Alison Taylor revealed that her chronic intestinal symptoms were due to the fermentative activity of bacteria that produce large amounts of hydrogen and methane gas, known as small intestinal bacterial overgrowth (SIBO). I wrote about how I discovered that this is a known condition. “I realized this was me,” the woman wrote, and proper dieting “changed my life.”
Finally, your psychological state can greatly affect your gut function, such as anxiety-induced diarrhea or constipation-induced depression. Therefore, some hypnotherapy treatments for IBS have well-documented benefits. “I wasn’t expecting much, but it made such a big difference,” says another woman. “It probably won’t work for everyone, but you won’t know until you try it.”
Please email any questions or comments confidentially to Drjames@telegraph.co.uk.
