Robin Cook - Marker

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.

On the first floor, Laurie appreciated being surrounded by the surging crowds coming and going in the busy hospital. The anonymity provided an unexpected solace from her mental turmoil. There was a bench opposite the information booth, and Laurie took a moment to sit down. She took a deep breath. She was calming down. What she needed to do was decide what to do next. She'd promised Sue she'd come over to the clinic ASAP to set up an appointment with the oncologist, but as Laurie sat there, she felt the need for a more personal interaction. She thought of Roger and wondered if he'd be available.

The administrative area was close, and as the connecting door closed behind her, Laurie realized that she now preferred the calmness to the hospital lobby's chaos. Her shoes didn't make a sound on the carpet. Trying not to think about the reality of a genetic time bomb ticking away in every one of her cells, she walked down to the area of Roger's office. One of the secretaries recognized her from earlier.

"Dr. Rousseau is in his office now," the secretary said, looking at Laurie from behind her monitor.

Laurie nodded an acknowledgment and walked to Roger's doorway. His door was ajar. He was sitting at his desk, going over paperwork. Laurie knocked on the jamb, and Roger looked up. He was dressed as he usually was at the hospital, in a freshly laundered, crisp white shirt. He had on a golden silk tie, the texture and color of which contrasted nicely with his craggy, permanently tanned face.

"My word!" he said, catching sight of Laurie and leaping to his feet. "I just left a message on your voicemail two seconds ago. What a coincidence." He came around from behind his desk, and closed his door. Turning back to her, he gave her a quick hug and a kiss on the forehead. He didn't notice that her arms stayed limp at her sides. "I'm so glad you are here. I have so much to talk with you about." He turned his two straight-backed chairs around to face each other. He motioned for Laurie to sit, and he did the same.

"You can't believe the morning I've had," Roger gushed. "There were two more postoperative deaths last night, just like the previous four: both of them young and healthy."

"I know," Laurie said in a subdued voice. "I've already autopsied both of them. It was what I was called you about earlier."

"And what did you find?"

"There was nothing: no pathology," Laurie said in the same quiet manner. "They were like the previous four."

"I knew it! I knew it!" Roger said, punching the air with a fist. He stood up and paced back and forth in his tiny office. "I called an emergency meeting of the morbidity/mortality committee this morning, despite our having just met two days ago. I presented the two cases as evidence that these past five weeks have been no more than a pause. I argued vainly that we have to do something. But, oh, no, we're not to rock the boat, since the media might get wind of it. I have half the mind to make an anonymous call to the media so it wouldn't be an issue, but of course I won't. I even went into the president's office after the meeting to try to convince him to change his stance, but it was like talking to the wall. I even managed to get him angry at me by what he called my 'damned dogged determination.' "