Read more about this in BioNews newsletter, April 16, 2012: http://www.bionews.org.uk/page_138787.asp Read more...
Tags: autism risk, mutations in sperm, point mutations
autism | admin, 16 Apr 12 | 
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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...
Tags: blame, carriers, carriertesting, genetics, guilt, inheritance, recessive, stigma, x-linked
inheritance patterns, stigma | admin, 7 Jan 12 | Comments (0)
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...
I’d like you to meet my blue-jean–clad gnome. Thank you, my friends, K.T. and Cat! Read more...
about mybluegenome | admin, 2 Jun 11 | Comments (0)
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...
Tags: accepting risk, autosomal, disability, quality of life, risk factor, risk perception
contraception, disability rights, reproductive technology, risk perception | admin, 18 Feb 11 | Comments (0)
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...
contraception, reproductive technology | admin, 21 Jan 11 | Comments (2)
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...
Tags: bioethics, contraception, genetic, reproduction, technologies
contraception, disability rights, reproductive technology | admin, 12 Nov 10 | Comments (0)
This autumn [2010] sees the start of the screening of Division 1 student athletes for “sickle cell trait,” as mandated by the National Collegiate Athletic Association. From 2000 to 2009, seven college football players who were genetic carriers of sickle cell anemia have died during extreme workouts (see http://web1.ncaa.org/web_files/health_safety/SickleCellTraitforCoaches.pdf where the workouts are referred to as “conditioning activities”). These student athletes did not have sickle cell anemia. A person must have two matching genes, both coding for altered hemoglobin, to have the disease. Having only one such gene, the students who died were not afflicted with sickle cell disease. The Read more...
Tags: carrier testing, genetic discrimination, NCAA, sickle cell trait, stigma
sickle cell, specific disorders, stigma | admin, 30 Sep 10 | Comments (0)
The author of The Social Costs of Genetic Welfare, Marque-Luisa Miringoff, argues that we must strike a balance between the goal of eradicating genetic diseases and respect for human dignity. Social movements of the past fifty years have stressed respect for differences and support for those with less strength or power than the perfectly healthy. Miringoff states that a single-minded focus on genetic health “narrows the range of desirable human beings, identifying the different, the diseased, or the disabled as those we wish to ‘root out’” (p. 161). The challenge is to enable the less-than-perfect to function as fully as Read more...
Tags: genetic welfare, human dignity, Miringoff
disability rights, reproductive technology | admin, 26 Sep 10 | Comments (0)
Some of the people I have spoken with have a sibling with a genetic disorder. They have expressed how much they value their sib and the experiences they have had with or because of their brother or sister. There is often strong loyalty to that person, disability and all. They don’t want to say or feel anything that would imply that the world or their family would have been better off without them. They therefore have conflicted feelings about preventing the birth of another affected child, even though they would have loved to be able to eliminate the health problems Read more...
Tags: carriers, disability rights, genetic, IVF, PGD, siblings
disability rights, siblings | admin, 21 Sep 10 | Comments (0)