Talk

Guest post from Lisa Kessler, DNA Direct’s Senior Genetic Counselor:

A recent article in the New York Times about red flags for hereditary cancer went into detail about specific findings in families. About 5-10% of cancers are thought to be strongly hereditary; for people who worry about their genetic risk, and who have a family history consistent with a hereditary cancer syndrome, genetic counseling and genetic testing can be extremely useful for decisions about personal and family health.

The article emphasizes the need for “intensive professional counseling” for individuals and families concerned about hereditary cancer risk, and I agree completely. I believe that genetic counseling helps people understand whether testing is medically indicated—and why, learn the benefits and limitations of testing, and understand why a certain family member might be the most informative person to test.

At DNA Direct, genetic counseling is required for people considering testing, both before and after hereditary cancer testing. Our counseling model provides people with an opportunity to learn about the testing to determine if it’s right for them — and for their families.

Most people aren’t familiar with the type of information discussed in a genetic counseling session. At DNA Direct, a pre-test genetic counseling session for someone considering BRCA1 and BRCA2 testing (genes for hereditary breast and ovarian cancer risk) includes, but is not limited to:

• discussion of personal medical history related to cancer
• drawing and interpretation of a 3-generation family health history diagram
• discussion of who in the family is the most appropriate member to test first
• background information about genes, chromosomes, and inheritance
• specific cancer risks associated with having a BRCA1/2 mutation
• options for cancer screening and prevention for people at high risk
• discussion of the benefits and limitations of BRCA testing, including psychological impact
• understanding the possible results of testing

If people proceed with testing through DNA Direct, a board-certified genetic counselor discloses the test results over the telephone. Then, clients can access a detailed, 5-chapter Personalized Report that reviews much of the information discussed during the pre- and post-test consultations. Because people often have questions after receiving their results, our genetic counselors are available to answer questions or simply for support, for all who test with us.

Not all patients can see a genetic counselor in person. Providing counseling by telephone gives us at DNA Direct the chance to increase access to genetic services in a responsible way, with a focus on ensuring reliable, easy-to-understand and informative results.

Lisa Kessler, MS, CGC
Senior Genetic Counselor

My sympathies go out to Tony Snow and his family for the latest news about his colon cancer recurrence. In 2005, Snow was diagnosed with Stage 3 colon cancer, had his colon removed and underwent six months of chemotherapy. Now a second cancer has been removed, and reports say it has metastasized to his lever.

Cancer news is never good news. Snow’s news, however, is an unfortunate reminder of my “prevent colon cancer, screen screen screen!” message. (I say this to all my friends when they turn 50.)

• Colon cancer is the third cancer killer in the U.S.
• But, it is the most preventable cancer: if caught in the early stage, it’s 90% treatable.
• The way to catch colon cancer early is to screen for it: by the time someone’s showing symptoms, it’s usually progressed

The American Cancer Society and other medical organizations have recommended the following guidelines for general colorectal cancer screening:

All Men and Women Aged 50 or Older—Everyone aged 50 years or older should be tested routinely. At least 75 percent (3 out of 4) of colorectal cancers occur in people with no family or personal history and no known risk factors that would place them at high risk.

People at Increased Risk—People at increased risk may need to begin screening earlier and more often than people at average risk. Family and personal history should be considered when determining their screening schedules. People considered at high risk are:

• People with a personal or family history of colorectal cancer or polyps
• People who have had inflammatory bowel disease (ulcerative colitis or Crohn’s disease)
• People with genetic syndromes (familial adenomatous polyposis or hereditary nonpolyposis colon cancer)

Regular screening can catch colorectal cancer early, when it is most treatable. Regular screening can save lives.

How do you screen? Colonoscopy is the gold standard. Many people don’t relish this thought. There are other methods - including a stool DNA test (yes, that’s the gene connection in this post). My company’s website has a comparison chart for different screening methods.

Read more: previous posts on colon cancer screening, stool dna testing and the like

Update 3/30: Time magazine echoes the “screen, screen, screen” message.

The best way to manage colon cancer, however, is to prevent it from getting too far. … When caught early, [Dr. Raymond DuBois, incoming provost of MD Anderson Cancer Center and a colon cancer specialist] notes, malignant growths still contained in the intestine can be removed with surgery, and 50% of patients are cured this way. About 30% of colon cancer patients, however, are diagnosed with the disease after it has progressed to more advanced stages, and spread to other organs such as the liver. “The one important message for everyone is that you don’t have to go through what Tony Snow is [going through],” says DuBois.

Technorati Tags: tony snow, colon cancer, recurrence, colorectal cancer screening, screening recommendations, american cancer society, screening methods, stool DNA test

If you’re 50 years old or older, you’ve been told “Time to get a colonoscopy.” But have you done it? Not exactly the birthday present you’d like, eh?

Everyone should do it, no one wants to, and until now we’ve thought it’s the best way to prevent colon cancer — which is the third most common cancer in the U.S. and the most preventable.

Colonoscopy is the “gold standard” for screening - meaning all the docs say it’s the very best way to detect colon cancer and pre-cancerous polyps. But today’s NY Times has an illuminating article about this:

[A] new study, published today in The New England Journal of Medicine, provides a graphic illustration of how wrong that assumption can be, gastroenterologists say. The study, of 12 highly experienced board-certified gastroenterologists in private practice, found some were 10 times better than others at finding adenomas, the polyps that can turn into cancer. One factor distinguishing the physicians who found many adenomas from those who found few was the amount of time spent examining the colon….

(more…)

New, Promising Treatments for Cystic Fibrosis. Forbes has a long article on two drugs, Inspire and Vertex, that are in late stage clinical trials. The article has a great explanation of how cystic fibrosis on a cellular level causes its symptoms - breathing, lung, and digestive problems. (Forbes online is free, but they require registration)

Affymetrix to Launch a 1 Million-SNP Microarray. The new GeneChip will debut early next year, at around $500. Affy is also dropping the price of its 500,000-SNP genotyping to $250. More heralds of the fast-approaching age of affordable genotyping.

Couples Select Embryos to Halt Inherited Cancer. Part of the NY Times’ series, “The DNA Age,” this article explains how preimplantation genetic diagnosis, or PGD, can avoid the tranmission of fatal conditions like Huntington’s Disease as well as significant cancer risk genes, as the family profiled in the article chose to do. This technology and the use of it raises ethical issues and has many talking about what it means that this technology may only be accessed by those with the significant financial means. The Times, as usual, has a balanced discussion.

Update: A Genetic Code for Breast and Colon Cancer. The first draft is in, and The Biotech Weblog has the scoop. This is very exciting! The promise lies in both detection (with tests like PreGen Plus) and with targeted treatment.

Technorati Tags: cystic fibrosis, clinical trials, genotyping, genetic testing, GeneChip, preimplantation genetic diagnosis, huntington’s disease, inherited cancers, breast cancer, colorectal cancer, diagnosis, treatment

There’s a theme to our water cooler/coffee pot discussions this week: genes and women’s health.

Uterine Cancer May Be Clue to Inherited Cancer Syndrome: A new study showed that 1.8 percent (or about one in 50) of newly diagnosed endometrial cancer patients have inherited mutations for Lynch syndrome, a condition also known as hereditary nonpolyposis colon cancer, or HNPCC. Screening, of course, can reduce risk of further cancers.

Estrogen Therapy, Blood Clots & Genes: So we know that blood clots are usually caused by the confluence of a number of factors — things like being overweight, smoking, taking oral contraceptives, having certain genes. Any of these factors individually increase your risk, and multiple factors compound your risk. So if you’re considering estrogen therapy, you should weigh your cumulative risk for blood clots. The one thing most people don’t know about are their genes, but cheek-swab genetic testing is available for inherited blood clotting disorders.

Multivitamins, Pregnancy & Preeclampsia: If you’re planning a pregnancy, start taking that multivitamin pill now (if you don’t already). It’s a simple, easy thing to do and can significantly reduce your risk for preeclampsia, the leading cause of premature birth and maternal/fetal death. Research from the University of Pittsburgh. Hat tip to Gloria Gamat.

(One of these stories is not like the other, one of these stories is not about genes. But the doula in me says it’s something every woman should know.)

Technorati Tags: genes, women’s health, uterine cancer, estrogen therapy, HRT, blood clots, blood clotting disorders, pregnancy risk, preeclampsia, prevention

There continues to be much debate in the genetics community about whether genetic discrimination exists. This week’s Grand Rounds spotlights a beautiful piece by Dr. Charles about a patient faced with a serious genetic risk for HNPCC (hereditary nonpolyposis colorectal cancer) and how he responded to her fears of discrimination. He writes,

“There are three things holding back discrimination. The first is the structure of American health care financing system in which only a minority of people are exposed to individual policy underwriting. Most Americans get their health insurance non-selectively through their employers, Medicare, or Medicaid. The second is a web of state laws that explicitly prohibit genetic discrimination in at least 30 states, and implicitly protect in all but three. Federal laws such as the Americans with Disabilities Act and the Employee Retirement Income Security Act have deterred employers and insurers from discriminating, although they have never been formally tested in the court system. The third is that most diseases result from multiple causative factors, chance, or do not stem from simple, easily identified genes with predictable inheritance.”

Whether or not genetic discrimination exists, many of us are concerned that the fear of discrimination is keeping people who could benefit from genetic testing away from testing. Dr. Charles’ patient is a perfect example: the increased surveillance her test results have warranted may mean the difference between a curable or terminal diagnosis.

Read more:

• Why genetic discrimination is not common, and thoughts from Genetics and Health
• Our long discussion of why genetic information is unique
• Human Genome Project: genetics privacy and legislation

Technorati Tags: genetic discrimination, genetic testing, HNPCC, hereditary nonpolyposis colorectal cancer, privacy, legislation, human genome project

A visit with an old friend this weekend underscored my hope that the work we do today will change the lives of our children tomorrow. My friend is 36, the same age his father was when he was diagnosed with and died from colon cancer. My friend has a daughter who is 7, the same age his sister was when their father died.

Anniversaries and hallmarks like this have a way of reminding us of our risks and motivating us to do something about them. (I just reached the age at which my mother had her second breast cancer. Hello again, mammogram.)

From a very young age, my friend has done all the right things to prevent colon cancer, including having a recommended colonoscopy 10 years earlier than the age of his father’s diagnosis. (Colon cancer is slow growing, and it’s highly curable if nipped in the bud. That’s why high-riskers start screening early.)

This visit, I was excited to compare notes with my friend about PreGen-Plus, a DNA stool test for early detection. Since my company now offers this test, he wanted the inside scoop. As an interim screening between his regular colonoscopies (every 10 years), PreGen-Plus can reassure my friend (who is a worrier), that he’s on top of his insides. Should anything develop, PreGen-Plus is an extra step to make sure he catches it asap. That goes a long way toward prevention - and peace of mind, too.

Here’s everything you need to know about colon cancer, from the American Cancer Society: Colorectal Cancer Facts & Figures, Special Report 2005

If you think you don’t need to know about this, Katie Couric and Morgan Freeman will explain why you do.

Technorati Tags: colon cancer, risks, prevention, colonoscopy, PreGen-Plus, DNA stool test, colorectal cancer, Katie Couric, Morgan Freeman