Box 348 The Option To Not Test

Even a brief conversation with Jill shows her to be expressive and intelligent, with her striking prettiness often lit up by warmth and sympathy and humor that have to have been assets in her nursing career. However, when Jill was growing up, people who did not know her well sometimes decided that she was a bit stuck-up or standoffish. If you were to meet her, you would wonder how anyone could think her manner anything but friendly. That is, you might wonder, unless you looked down and saw her constant canine companion, a beautiful yellow lab wearing a sign saying, "Please do not pet me, I am working." Jill was born deaf and as a teenager began losing her sight. She was "mainstreamed" in the public school system, learning to speak words she could not hear and to "hear" spoken language through a combination of lip-reading and other cues. She was adept at carrying on a conversation with someone sitting across from her at the lunch table or standing and talking to her in the hall. However, if someone who did not realize she was deaf asked, "Hi, how are you doing?" as they passed her in the hall, they would get no reaction because she had no idea she had been addressed. As her visual field gradually shrank, she might not see if someone who was not right in front of her waved and then looked confused when she did not turn to wave back. Jill has Usher syndrome, a combination of traits that starts out with deafness and later adds progressive vision loss from retinitis pigmentosa. She and her brother participated in a study of Usher syndrome that identified the genetic defect causing their hearing and vision loss. Researchers identified the gene and mutation responsible for their combination of visual and aural deficits. Jill has never gone back to ask the details of what they found out. She says that the information that came out of that study is of little use to her. It will not tell her anything about herself that she does not already know, and if she were ever to have a child, she would not have prenatal testing done because she would go ahead and have the child whether or not there were hearing or vision problems. This option to not carry on genetic testing is an important aspect of the rights of the individual to make their own reproductive decisions, so it is important that the system for educating and counseling people about genetic information include the ability to meet the needs of those who would continue the pregnancy no matter what the outcome of the test. In such cases, the main question becomes whether there is anything that such testing can do that can meet some other aspect of the family's needs, such as helping them prepare ahead of time to be able to meet some special needs present right at birth. There will be many cases like Jill's, where testing is not going to tell her anything that she needs to know sooner than she would be able to find out the old-fashioned way. The system needs to continue accommodating the desires of people like Jill to not do prenatal testing right along with the needs of those who want such testing done.

away from our soul mate based on a printout from a genetic testing company? Perhaps not. As genetic and reproductive technologies improve, giving up on having children, walking away from the love of your life, or having an abortion will be increasingly pushed aside by alternatives that let us fix the problem instead. Other technologies will allow for testing in the context of in vitro fertilization to preselect embryos free of the defect in question to be implanted in the mother's womb. Parental genotyping before reproduction will improve the odds that the children who are born will be healthy, or at least free of the identifiable defects for which their parents are carriers, and will improve the likelihood that neonatal health management will be improved in situations involving serious genetic illness that impacts the first days of life.

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