"Ms. Montgomery?" a voice asked.
Laurie looked up into the smiling face of a woman half her age. She was dressed in a simple white sweater with a single strand of pearls around her neck. Over her sweater was a clean white coat. In her left hand was a clipboard tucked against her side. She had her right hand extended. "I'm Anne Dickson."
Laurie got to her feet and shook the woman's hand. She then followed the woman through a side door and down a short hall. She was directed into a small, windowless room with a couch, two club chairs, a coffee table, and a file cabinet. Centered on the coffee table was a box of tissues.
Anne motioned for Laurie to sit on the sofa. She closed the door and then sat down in one of the chairs, the box of tissues conveniently between them. Anne consulted her clipboard for a moment and then looked up. From Laurie's perspective, she was a pleasant-appearing woman who could have been a mere college student in a work-study program rather than a person with at least a master's degree and probably extra training in genetics. She wore her straight, medium-length, brown hair parted in the middle, requiring her to frequently sweep it off her face and tuck it behind her ears. Her lipstick and nail polish were a dusky red-brown color.
"I appreciate you coming in on such short notice," Anne said. Her voice was soft with a slight nasal twang. "And I apologize again for having misplaced your folder."
Laurie smiled, but she could feel herself getting progressively impatient.
"I wanted to give you some background concerning what we do here in the genetic diagnostics lab," Anne continued. She crossed her legs and settled the clipboard between them. Laurie could see a small tattoo of a snake on the inside of her leg just above the ankle. "I also wanted to explain why you are talking with me rather than with one of our staff doctors. It's purely a matter of time: I have a lot, and they have a little. What that means is that I can be with you here for as long as you would like and answer all your questions. And if I can't answer them, I have immediate access to people who surely can."
Laurie didn't comment or change her expression while she silently ordered Anne to cut the fluff and just give her the damn results of the test. She leaned back abruptly, crossed her arms, and tried to remind herself that she shouldn't blame the messenger. Unfortunately, Anne and the situation was irking her to no end. She particularly found the convenient box of tissues patronizing, as if Anne expected her to break down emotionally, even though, knowing herself, Laurie knew it was a possibility.
"Now," Anne said after consulting her clipboard again and making Laurie feel as though she was getting a canned presentation. "It is important for you to know something about the science of genetics and how the field has all changed with the decoding of the human genome, meaning the sequence of all three-point-two billion nucleotide base pairs. But first let me say that you can interrupt at any moment if you don't understand something."
Laurie nodded impatiently. She couldn't help but wonder how much Anne knew about nucleotide base pairs, despite how flippantly she mentioned them. Nucleotide base pairs are the portions of the DNA molecule that form the ladder part of the molecule, and their linear order is responsible for conveying genetic information.
Anne went on to discuss Gregor Mendel's laws of genetics concerning dominant and recessive traits discovered by the monk's work with garden peas in the nineteenth century. Laurie couldn't believe what she was being subjected to, yet she didn't interrupt nor remind Anne that she was dealing with a physician who obviously would have come across Gregor Mendel's work in the course of her biological study. Laurie let the woman drone on about genes and how certain traits could be linked with other traits to form specific haplotypes that were inherited over generations.
At one point, Laurie even tuned the social worker out and concentrated on the woman's tics, which included, in addition to the almost constant sweeping of her hair behind her ear, a sustained blepharospasm when she was making a point. But Laurie's attention was drawn back to the woman when she started talking about single nucleotide polymorphisms, which she quickly began to refer to by using the acronym SNP. This was an arena of genetics that Laurie was not quite as knowledgeable about and had been learning about only recently.
"SNPs have become extremely important," Anne said. "They are specific sites in the human genome where a single nucleotide base pair has changed by mutation or deletion or even more rarely by insertion. Between any two people, there is an average of one SNP for every thousand or so nucleotide bases."
"Why have they become so important?" Laurie found herself asking.
"Because there are now millions of them mapped across the whole human genome. They now stand as convenient markers that are linked hereditarily to specific abnormal genes. It is much easier to test for the marker than to isolate and sequence the affected gene, although we generally do both just to be one hundred percent sure. We want to be confident we are giving our patients the correct information."
"Right," Laurie said irritably. Anne's comment about abnormal genes had rudely yanked Laurie back to the reality of why she was having this conversation. It was not an intellectual exercise.
Seemingly oblivious to Laurie's mind-set and after consulting her clipboard, Anne continued her monologue in her nasal twang. All at once, Laurie had had enough. Her patience came to an abrupt end. She uncrossed her arms and raised her right hand for Anne to stop speaking. Anne caught the cue, stopped in mid-sentence, and looked at Laurie questioningly.
"With all due respect," Laurie said, trying to modulate her voice to sound calm, "there is one significant piece of information, which you either don't have or have forgotten. I happen to be a physician myself. I appreciate this background material, but I assume that the real reason I am here is because you have the results of my test. I want to know what they are. So, if you could be so kind, I would like you to tell me."
Flustered to a degree, Anne again consulted her clipboard. When she looked up, her blepharospasm was significantly more pronounced. "I didn't know you were a physician. I saw the doctor title, but I assumed it was some other kind of doctor. It wasn't down as an MD."
"It's quite all right. Am I positive for the marker for the BRCA1 gene?"
"But we haven't talked about implications."
"I am aware of the implications, and any other questions that I might have, I will direct to my oncologist."
"I see," Anne said. She looked down at her clipboard as if it might provide some help in what she was obviously finding as an uncomfortable situation.
"I don't mean to sound unappreciative of your efforts," Laurie added, "but I need to know."
"Of course," Anne said. She straightened up in her chair and looked Laurie in the eye. There was no blepharospasm. "You are indeed positive for the marker for BRCA1, which has been confirmed by sequencing the gene. I'm sorry."
Laurie looked away with unseeing eyes while she bit her lower lip. Although she fully expected the news, she could feel tears amassing on the emotional horizon. She fought against it as a matter of principle. She was determined not to use the tissues on the table in front of her. "Okay," Laurie heard herself say. She also heard Anne start to speak, but Laurie did not listen. Although Laurie was generally acutely aware of others' feelings, under the circumstances, she didn't care. She knew she was blaming the messenger to some degree.
Laurie stood up, gave Anne what amounted to a crooked smile, and headed for the door. With her palms as wet as they were, she had no intention of shaking the woman's hand. She could hear Anne following her and calling her name, but she didn't even look back. She crossed the reception area of the clinic with a determined step and walked out into the hospital corridor.