Ms. W, 28 and single, decided to get tested when she was pregnant with her first child. A chronic genetic condition that can cause brain tumors — neurofibtomatosis type 1 — runs in her family. She lost her two brothers when they died from brain tumors as a result of the condition, and she feared her child would be infected.
So she sends a blood sample to a genetics lab. So do her remaining brother, sister and her mother. The NF1 gene is a haplotype, a set of linked genes that we inherit from previous generations, which makes up part of a chromosome. Because the gene can only be inherited, the entire family needs to be tested to establish linkage.
When the results arrive, Ms. W and her brother find they have not inherited NF1. But Ms. W’s sister and mother do share the gene carrying the chronic condition that causes brain tumors.
Ms. W may just be a case study in “An Ethics Casebook for Genetic Counselors,” but students at Boston University’s Genetic Counseling Program may someday meet and counsel a “Ms. W” of their own. Through similar cases, students learn to combine the genetic knowledge of a scientist with the sympathy of a counselor so they can help patients understand their own genetic tests and seek the best health options.
Our knowledge of genetics is constantly expanding — the human genome has been sequenced, genetic predilections for diseases like breast cancer have been discovered and private companies will, for a fee, test anyone’s DNA. But if genetic testing had a haplotype, something that has defined it since its conception, it would be controversy. A storm of ethical and legal problems blows around the issue, and genetic counselors find themselves on its front lines.
“And the more testing that’s done,” said MaryAnn Whalen, director of BU’s Genetic Counseling Program, “the more important genetic counseling will become.”
ABC’S OF DNA
There are around 25,000 genes in the human body, functioning as “building blocks that tell our body how to act,” Whalen said. Genes, constructed of DNA, tell us who we are. Genes clump together into chromosomes, and the whole set combined makes our genome.
“Your genome is going to look different than your brother’s or sister’s,” Whalen said. “Though there will be lots of similarities.”
Genetic testing involves scanning DNA to look for mutated genes and chromosomes, discovering either the existence of a disease or susceptibility to one.
As scientists began to speak the language of DNA, “whole areas of genetic counseling opened up,”said Dr. Robin Grubs, president of the American Board of Genetic Counselors and director of the Genetic Counseling Program at the University of Pittsburgh.
Other areas of healthcare will eventually be incorporated into genetic counseling, she said, as we learn the genes behind everything from heart disease to psychiatric disorders.
A MIX OF MEDICINE, THERAPY
BU’s genetic counseling program — a two-year masters degree program — is only three years old. The program’s 11 students take classes in genetics, counseling and ethics, and they get hours of clinical experience. As long as certain pre-requisite courses have been taken, any undergraduate can apply. Upon graduation, students must pass an exam and become certified with the American Board of Genetic Counselors.
“Genetic counseling is the perfect combination of science and people,” Whalen said. “And you’ll hear that from basically everyone involved in it.”
Patients sometimes enter the brave new DNA world with no knowledge of what genetic testing is. Genetic counselors provide guidance throughout the testing and decision-making process. Other patients are referred to a genetic counselor after testing, to help explain results and options.
Either way, “patients come in with fear, confusion, anxiety,” Whalen said, adding that genetic counselors inform them in hopes of making them more comfortable. But, she said, “we may not be able to take all that fear away.”
Counselors stress to patients that there is no blanket test for every known disease. They work in a team, usually with a genetic researcher, and make sure the patient has a support system — psychiatric consultants, family support and basic counseling, especially if the diagnosis is lethal. But most importantly, the final decision lies with the patient.
“Our goal is to lay out the options,” said ABGC President Grubs. “Not to tell people, you should do this, you should do that.”
Counselors must be informative and empathetic, but leave their opinions out of it. At BU, the counseling and ethical portion of the curriculum aims to show students “the right answer is not always black and white,” Whalen said.
GENOME ETHICS
The fictional Ms. W’s case proves the right answers are usually a murky shade of grey.
“Here’s a hypothetical,” said BU public health professor George Annas, chair of the department of health law, bioethics and human rights. “I have no doubt that someday there will be a test for Alzheimer’s disease. The first question is, should we permit people to be tested for that at all?”
Though the disease is incurable, and it will be a heavy burden on patients to uncover the likely cause of their death, people will still want to get tested for it, Annas said — and it’s just as hard to fight against the right to test as it would be to fight for testing without patient consent.
“Then if you are tested, do you have a right to keep that information secret? I think the answer is yes, but we don’t know yet,” he said.
Whalen said genetic counselors will usually tell patients the benefits of talking to their family, or help them draft letters to give to their family, which explains the complex scientific process.
Because genetic testing is new, there are no national regulations for such ethical and legal problems.
“Should testing be regulated by laws, professional standards or a consumer model?” Annas said. “Who makes the decisions? Should it be us as a society? The medical profession? Each individual do what they think is right? And nobody has an answer to that.”
KNOWING OUR GENES
Even with all the questions, genetic testing is still vital, said BU professor Dr. Aubrey Milunsky, director of the school’s Center for Human Genetics. For people with risk factors, whether through ethnicity or family history, genetic tests can save lives.
“There are clear values of knowing what you’re susceptible to, and there are clear steps you could take for avoidance, to delay the condition,” Milunsky said.
“Many people have an attitude that they don’t really want to know what the crystal ball will show,” he said, but genetics isn’t about inevitability.
“It’s nurture and nature,” Annas said, “and genes are in both. Genes aren’t magic. They’re important. But genes aren’t destiny.”