What’s God got to do with it?

I’m a real sucker for animal videos on YouTube and came across this edited version of an earlier post which I had enjoyed a lot. The new one added a very lovely musical background and several captions. (Cllick “Read More” if the video isn’t visible yet.) I have to ask about one caption, though, “What is ‘God doesn’t make mistakes’ supposed to mean?” It’s one thing when a little girl says “God didn’t make a mistake when he made me” (the source of the caption). Her parents gave her a way of forestalling those who would look down on her  Read more...

Finding Out

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Your baby has just been diagnosed with a genetic disorder.  Before you can really grasp that, the doctor recommends that you and your partner have genetic tests to find out whether you are carriers. In other words, whether this disorder came from you. Which one of you? Either one? Both?  It’s bad enough to find out your child is sick, will have life-long problems, or maybe even a really short life. Now you find out she got it from you. Nice. Really nice. ‘Course you’re also wondering about your other child. It’s going to be weeks before the results come in.  Read more...

Genetic Testing for BRCA1 and BRCA2

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Most breast cancer is not hereditary.  Available estimates say that genetic susceptibility (among white women) is involved in 5 to 10% of breast malignancies and 10 to 15% of ovarian cancers (BRCA mutations can cause either). We all possess wonderful genes called tumor suppressors. Two of the genes known to suppress breast and ovarian cancer tumors are called BRCA1 and BRCA2.  BRCA (pronounced brack’ uh) stands for BReast CAncer.  Normally, we have two healthy copies of each tumor suppressor gene.  When a mutation, or change, occurs causing one gene to work incorrectly, the cell can still continue to suppress abnormal  Read more...

Genetic mutations in older fathers’ sperm linked to autism

Read more about this in BioNews newsletter, April 16, 2012: http://www.bionews.org.uk/page_138787.asp  Read more...

Don’t Blame Mother

©Bryan Sikora/Shutterstock

It shouldn’t be about blame, of course, in the first place. But, what is incomplete about the diagram below? When a child is diagnosed with an X-linked recessive disorder, the inheritance pattern is often illustrated with a diagram like this one. Notice where the buck stops. What could going back one more previous generation reveal? There are (at least) five possibilities. First, let’s be clear, the mother might not be a carrier to begin with. There might not have been a genetic alteration previous to the diagnosed child; the mutation (to use the “m-word”) just sprang up suddenly in the  Read more...

Is it stigmatizing to be identified as a carrier of a genetic disorder?

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When a disorder “runs in the family,” it might be a source of stigma. Whether it is or not, all depends. Being stigmatized, or marked as different and undesirable, involves the loss of social standing. One is marked as being less than others and is aware of being so marked. Usually, there are negative stereotypes associated with stigmatized groups. The classic  work on the subject is Stigma: Notes on the Management of Spoiled Identity (1963), by  Erving Goffman, in which stigma is described as tainting and discrediting. Stigma is  defined by a social environment because it results from the way  Read more...

MyBlueGenome makes his debut

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I’d like you to meet my blue-jean–clad gnome.         Thank you, my friends, K.T. and Cat!    Read more...

Between a Rock and a Hard Place

© Greg Epperson

That’s how a one might feel if she or he is concerned about genetic risk but conscientiously objects to reproductive technology (reprotech). And if one’s risk is not X-linked (see preceding blog entry), then even natural sex-selection isn’t going to help as boys and girls will be at equal risk of inheriting the disorder involved. Here is where one must take a good, long look at “risk.” Just what does risk involve? What does it mean to you as an individual? The same risk factor (a numerical estimate that your genetic counselor computes from many pieces of information) can be viewed  Read more...

Natural ways to reduce risk of genetic disorders in your child

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What are the options for carriers who want children, but without resorting to selective termination or destruction of embryos that will not be implanted? This is one situation where carrying an X-linked trait has an advantage over carrying an autosomal trait. (Genes coding for autosomal traits are located on chromosomes other than the sex chromosomes that determine the sex of the embryo.)  Carrying an autosomal trait has the advantage of signifying little unless one’s partner also carries it. That situation does occur, of course, and will be discussed in a subsequent blog entry. The primary option for carriers of X-linked  Read more...

Who Is and Who Isn’t

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In my earlier entry “A Precarious Balance” I observed that, “One can also question whether it is the best plan to reduce pain and suffering by denying life to those whom we expect to experience it.” Since then I’ve discovered a marvelous little book called Choosing Children: The Ethical Dilemmas of Genetic Intervention (2006). The author, Jonathan Glover, is a philosopher/bioethicist, but don’t let that fool you. He actually clarifies issues and I hope the effect of having read his book is evident in some of what follows.   Central to the question of denying life to those who might  Read more...