What’s Bigger: Genes or Chromosomes? A Lady with a Ph.D Is Suddenly Not Sure
By Talya Miron-Shatz, Ph.D.
Making sure that patients receive information in a manner that facilitates a clear understanding and consequently better decisions, is, if you will, a mission I am on. I come to it with my pronounced vulnerability and my rage at the fact that others are even more vulnerable than I am. The mission of making medical information comprehensible snuck up on me, and this is how it all began.
I was getting my PhD in psychology, studying ways for improving expert and lay judgment. One of my professors asked if I might be interested in teaching a decision making course to Masters’ students of genetic counseling at the Hadassah School of Medicine, affiliated with Hebrew University. I accepted emphatically. Then realized I had no idea what knowledge my future students would benefit from the most.
The best, really the only place to start, was to go see what genetic counselors do. The couple coming to meet the genetic counselor that day presented an interesting case. He was an albino, and they were both hearing impaired, so they had an interpreter accompany them in the consultation. They also brought along their two year old child, also hearing impaired, for want of a babysitter. The counselor introduced me to the couple and asked them if it was ok for me to attend the session. They had just braved the daunting parking lot and the labyrinth of corridors, and were, literally, out of breatch. Sure, they said. Whatever.
She was pregnant and they wanted to know what to expect when the baby was delivered – what were the chances that he or she would also lack pigmentation and/or be deaf? They did not mind either way, they just wanted to know and be emotionally and logistically prepared. They were also curious about whose ‘fault’ it would be, mom’s or dad’s. Seems that it mattered to her mother, who overtly blamed her daughter’s husband for the child’s hearing impairment.
The genetic counselor was just the kind of health expert you would hope for -– highly professional, well-prepared, and caring. Since the couple had come to see her before having their first child, she was familiar with their family histories. She spread out the charts detailing both the paternal and maternal heritage and methodically explained how genetics worked, starting with the chromosomes and the genes. None of this was redundant for me. I had not been a science major, and hadn’t taken a biology class since high school. Remembering which was the bigger unit, chromosome or gene, was no easy task. I did manage to figure out there were 23 pairs of chromosomes, and, well, lots of genes.
Meanwhile, the counselor was explaining this to the interpreter, who seemed no less bewildered than I was, who, in turn would explain it to the couple. And information just kept on coming, all of which she had to convey to the couple by means of sign language! I couldn’t help but wonder what the parents would say if we asked them to translate back what they had been told. I didn’t ask.
The child was antsy, toddling back and forth between the brown- haired mom and the white-haired dad. The couple was there. The mother rummaging in her bag for a snack to give the little one. The father bouncing the child on his knees. They were there, but they were not really listening, and it wasn’t because they wore hearing aids, it was because they were lost, and became lost fairly early. You could see it in their faces. Chromosomes, genes, dominant, recessive – lots of words, lots of terms, but not a lot of meaning. And I had to admit I was not faring much better! I had some high school biology on my side, and the fact that it was not my future, my baby, at stake. It was not my child running around bored, not my anxiety. Still, understanding the information and the sinuous chain of hereditary causality was hard enough..
The parents wanted the bottom line, and they soon got it. The counselor, infinitely patient, examined the family histories and reached the conclusion that deafness was passed from the mother’s side of the family. The father’s condition was recessive, which meant that passing it on to the newborn would require both parents to be carriers of the specific gene variant. The mother, however, did not seem to have this variant in her family. Her deafness resulted from a different variation, one more easily transmitted to an offspring. If the baby was born deaf, dad was off the hook. All his mother-in-law’s animosity and finger-pointing had been in vain, and this point certainly came across. But would they be able to repeat the explanation? Did they truly comprehend what was going on in their DNA? It was hard to tell.
Couple, antsy child, and interpreter spent less than an hour with us in the small room, but when they left I felt drained. It was knowledge they sought, and they received it from one of the best genetic counselors in the field. Yet what did they make of it? What of all that had been said to them, via interpreter, was understood, lingered, internalized? It had nothing to do with being hearing impaired or albino. It had everything to do with being a patient. For all my fancy graduate training, let alone my ability to hear, I suspect I had no better grasp on what was conveyed than they did.
Knowledge does not simply pour out of the medical system and into the patients’ minds, I realized that day. Knowledge has to be understood and processed as well as dealt with emotionally. It was the counselor’s job to explain and the patient’s job to get it – a simple goal, yet profoundly elusive. My experience in that genetic counseling session, in that hour that was this couple’s time for figuring out what lay within their cells, and what their unborn baby might be like, proved this all to be true beyond doubt. And helping patients ‘get it’, has proven to be a mission most worthwhile.
Talya Miron-Shatz, Ph.D. is Research Coordinator at Princeton University in Princeton, NJ. You can learn more about patients’ experiences within the medical labyrinth by going to her blog at http://www.psychologytoday.com/blog/baffled-numbers
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