A Kirkus Best Book of 2016
Oncologist and cancer gene hunter Theo Ross delivers the first authoritative, go-to for people facing a genetic predisposition for cancer
There are 13 million people with cancer in the United States, and it’s estimated that about 1.3 million of these cases are hereditary. Yet despite advanced training in cancer genetics and years of practicing medicine, Dr. Theo Ross was never certain whether the history of cancers in her family was simple bad luck or a sign that they were carriers of a cancer-causing genetic mutation. Then she was diagnosed with melanoma, and for someone with a dark complexion, melanoma made no sense. It turned out there was a genetic factor at work.
Using her own family’s story, the latest science of cancer genetics, and her experience as a practicing physician, Ross shows readers how to spot the patterns of inherited cancer, how to get tested for cancer-causing genes, and what to do if you have one. With a foreword by Siddartha Mukherjee, prize winning author of The Emperor of All Maladies, this will be the first authoritative, go-to for people facing inherited cancer, this book empowers readers to face their genetic heritage without fear and to make decisions that will keep them and their families healthy.
|Publisher:||Penguin Publishing Group|
|Product dimensions:||5.30(w) x 7.90(h) x 0.90(d)|
About the Author
Theo Ross, M.D., Ph.D., is a professor of internal medicine and the director of the Cancer Genetics Program at the University of Texas Southwestern Medical Center. Ross is a leading researcher on cancer susceptibility genes, as well as a practitioner who specialized in treating breast cancer for more than a decade and now cares for all types of patients who have a family history of cancer. She is also a carrier of a cancer-causing mutation.
Read an Excerpt
At any given moment, thirteen million people in the United States have cancer. For each of those thirteen million, there are family members who are wondering: Is this cancer part of a pattern? Does cancer run in my family? Am I at risk?
If you are asking these questions, you are in the same shoes I stood in. If you are like me, you may be frustrated that the rest of the world believes you have a clear path ahead of you. Take a family medical history, talk to your doctor, get tested if necessary, get a definitive answer.
As you may have already discovered, it’s not that easy. I spent years training in both science and medicine—with a specialty in cancer—and even I found that these steps are far more complicated than they seem. Cancer is a big, unwieldy topic; so is genetics. There’s so much to get your head around and so many possible obstacles in your path.
Some of those obstacles are pretty close to home. For example, there’s a general feeling that a person who’s worried about a cancer mutation should “just get tested.” It’s a simple concept in theory, but the reality is more complicated. Although it’s possible to get an over-the-counter genetic test on your own, the labs that perform these tests are forbidden by law from interpreting most of the results for you. The law is there to protect you against interpretations that are inaccurate or lead to actions that are harmful. An over-the counter lab can tell you that you have a possible mutation in a particular gene, but you wouldn’t know whether that gene variation is harmful or benign, or whether it’s a variation whose significance is not yet known. (As I’ll explain later in the book, the vast majority of rare genetic variations from what we consider “normal” are harmless, and there are many, many mutations we don’t yet understand.) If you don’t know what a genetic change means, you don’t have a very helpful piece of information; you just have a bunch of numbers and letters on a page.
For that reason, it’s far better to work through a doctor or a genetic counselor. But one of the most counterproductive things you can do is send your blood to a lab, or let your doctor send your blood to a lab, without first understanding what syndromes and mutations you’re most likely at risk for. These labs analyze the genes that are most likely to be mutated, which varies from person to person; without accurate knowledge of your family history, you could easily end up getting the wrong test—and, possibly, a false sense of security. To determine what genes are most likely to have mutations, you (along with a genetic counselor) need to be able to spot the patterns common to familial cancers. Even if you already know that you have a mutation, it’s important to get a family history. A family history helps predict the risk of a mutation in any particular individual. Without a family history, you may know that you have an increased risk, but you may not know whether your risk is on the high end, the low end, or somewhere in the middle. That information—where you fall in the range of increased risk—can affect the choices you make about how to protect yourself.
For these reasons, you need a family health history that is as thorough as possible. Taking a family history sounds like a neatly defined task. Until you run into family members who lie to you or who make it emotionally perilous to discuss health issues.
At first this concern can sound outdated. Cancer secrecy? Cancer shame? In the twenty-first century? It’s been forty years since Betty Ford announced that she’d had a mastectomy. Two decades since the first cancer-awareness ribbon fluttered. More than a decade since Katie Couric’s colonoscopy was broadcast live. And eight years since Merriam-Webster named “oversharing” its word of the year. It’s been a long, long time since “cancer” was a word that made nice ladies blanch and gaze down at their shoes.
And yet. We do keep secrets about cancer, and it’s incredibly common to run into other problems—vagueness, bad information, bad feelings, legal issues—that keep people from understanding their risk. In addition to now happily researching the normal and abnormal biology of BRCA and other cancer genes in the lab, I work with a team of counselors and high-risk cancer patients of all kinds. Every day we see patients who are blindsided by a diagnosis of inherited cancer. These are people who have already missed their chances for early detection and preventive treatment. Now they’re scrambling to learn enough about their histories to determine if they are at risk for future cancers—and to write an accurate history for the next generation. Some examples: A young woman is surprised when she develops ovarian cancer, apparently out of the blue; she then learns that her aunt also had ovarian cancer in early adulthood but had been so embarrassed that she didn’t tell anyone about it. A son gets colon cancer at twenty and finds out the man he’s always thought was his father is not, in fact, his biological father, and that his bloodline father died of colon cancer—also at age twenty. Another family doesn’t realize that they have a significant history of prostate cancers. That’s because some branches of the family refuse to speak to other branches; no one has put together the full medical history.
In my own case, my family had no serious estrangements, and our worries about cancer actually pulled us closer together. Yet somehow we had unwittingly spread half-truths about our family history, carried secret histories about our ancestry, and ignored our best instincts when those instincts were inconvenient. (I was especially guilty of that last charge.) We weren’t the only ones to participate in the concealment of our inheritance. Along the way, doctors and researchers helped us keep the truth from ourselves. There was no conspiracy here—just a human tendency to avoid pain and awkward discussions. When you’re looking for patterns that suggest inherited mutations, this kind of misinformation can send you miles down the wrong path. Difficulty figuring out the family history is the rule, not the exception.
What about getting cancer information from the Internet? What sounds like a good plan is actually an exercise in frustration. You can’t Google your way to an understanding of family cancer. The few sites and pages that specifically address family cancer don’t tell you what you really need to know. “Get counseling,” they chirp. “Get tested!” But they don’t offer thorough information about the nature of hereditary cancers and the kinds of patterns that can alert you to the possibility that a cancer syndrome is being passed down through the generations of your family.
For example, there’s a lot of chatter online and in doctors’ offices about mutations in BRCA1 and BRCA2, the breast cancer genes. But there are other mutations that can lead to breast cancer—and BRCA mutations can lead to more than just breast cancer. Also, they can affect both men and women. So if your father has had prostate cancer and your uncle has been diagnosed with melanoma, you may carry a BRCA mutation—even if you’re a man. Both men and women with BRCA mutations are at risk for a variety of cancers, and so are adult children who inherit a broken BRCA gene from their parent. But most websites and other public sources of information offer a more limited view. In the pages to come, you’ll get the details you need to investigate your family’s patterns and understand what you find.
Not knowing about a genetic predisposition to cancer, or not understanding the significance of that predisposition, matters. It matters because there is so much good to be discovered in that knowledge. As I found, learning your genetic inheritance may feel daunting, but in the end it can give you a sense of release, an ability to go out into the world with less fear and more confidence. It grants you the power to make lifesaving decisions, both for yourself and for the generations to come.
Table of Contents
Foreword Siddhartha Mukherjee, M.D., Ph.D xiii
1 Knowledge that can save Your Life 1
Why Not "Just Get Tested"? 9
A Family History of Cancer Is a Powerful Tool for Better Health 13
2 The Double Helix: Biology isn't Destiny 17
Every Cancer Is Genetic 19
A Short (Very Short) Tutorial in Genetics 20
Inherited vs. Sporadic Cancer 22
Does Cancer Run in Your Family? Look for These Signs 25
Inherited Cancer Syndromes 27
Cancer and Family Secrets 29
Charting Your Family's Health History 35
3 Taking a Family History: Dealing with Silence, Dealing with Drama 39
Genogram to the Rescue 46
Fuzzy Facts: When the Family's Cancer Truth Is Lost to History 56
Secret Ethnic Histories 59
How to Learn about Your Genetic Inheritance When You're Adopted 67
The Best Time to See Your Doctor 70
4 Is Your Doctor Truthy? Are You? 72
(Truthy) Things Doctors Say about Inherited Cancer 74
When Medical Records Lie 81
HIPAA: It Helps More Than It Hurts 83
What about Me? What about You? How to Avoid Avoidance 86
5 Genetic Counseling, Genetic Testing, and Family Conversations 91
Do You Need Genetic Counseling? 92
How Genetic Counselors Can Help You 95
Get the Most from Your Genetic Counseling Appointment 100
What Happens during Genetic Testing 103
What about Direct-to-Consumer Genetic Tests? 105
Understanding the Results of a Genetic Test 105
Getting the News 111
We Need "Mystery Patients" to Help Us Understand the Genome 113
Effects on Your Insurance Policies and Employment 115
Telling Your Family about a Mutation in a Cancer Gene 116
6 How to Manage Your Cancer Risk When Information is Limited 121
Cancer Risk Management and the Powers It Brings 122
Risk Management Options for Common Family Cancer Syndromes 124
Difficulties in Decision Making 126
Tools for Resolving Decisional Conflict 138
7 Targeted Treatments for Cancer: Realities, Myths, Possibilities 147
What Are Targeted Therapies? 150
Hormonal Therapies 154
Kinase Inhibitors 157
PARP Inhibitors 159
Therapeutic Antibodies 162
Immune Therapies 163
Combined Therapies 166
How to Sift Hope from Hype 167
Why We Need Clinical Trials 171
What about Sequencing the Whole Genome of Your Germline or Tumor? 177
8 Science is a Group Project: Data Points and You 180
Privacy, Consent, and Good Data-Sharing 186
Let's Build Data-Sharing Plans for Cancer Genetics 189
What Families Can Do to Accelerate Cancer Research 192
Appendix 1 Inherited Cancer Syndromes 201
Appendix 2 Risk Management for Inherited Cancer Syndromes 223