Say What? Genetic Confusion
by Dr. Hsien-Hsien Lei
Posted October 3, 2007 in DNA Testing, DNA and Disease
Just saw this correction in the Los Angeles Times:
Genetics: An article on cancer risk in Monday’s Health section referred in some places to the BRCA1 and BRCA2 genes as increasing the risk for some types of cancer. The genes themselves are not responsible; certain mutations of those genes are what increase the risk of the disease.
Herein lies some great confusion. One of the paragraphs that I assume was corrected:
Lujan underwent genetic counseling and testing at St. Joseph Hospital Cancer Genetics Program in Orange, and the results confirmed her suspicions. She carried the BRCA1 gene, one of the two most prevalent genes linked to breast cancer (the other is BRCA2). That genetic mutation increased her lifetime risk of breast cancer from 13%, which is the average risk for any woman, to 85%. Her risk of ovarian cancer soared from less than 2% to 50%.
Does that make things any clearer? Not really.
First of all, we all have copies of the BRCA1 and BRCA2 genes so it should be no news that Ms. Lujan has the BRCA1 gene. Also, the article goes on to say that her daughter does not have the gene, which is incorrect and misleading. In fact, we have two copies of every gene in the genome (at last count around 22,000 genes) - one from our mother, one from our father; these versions of the gene are called alleles. The question is, do our copies of the genes behave as they should? The BRCA1 gene is a tumor suppressor gene that produces a protein which in turn interacts with other proteins within the cell that affect the way damaged DNA is repaired. Extensive DNA damage leads cells to grow uncontrollably and become cancerous.
Secondly, what genetic mutation(s) does Ms. Lujan have? More than 1,000 mutations have been identified in the BRCA1 gene alone. People don’t test positive for THE mutation in the BRCA genes thus implying that there is only one. They test positive for A mutation or perhaps even MORE THAN ONE mutation. Also, there are different types of genetic tests for BRCA1 and BRCA2 - full sequencing of the genes, multisite testing, or single site testing. A person may have one or more mutations in his/her BRCA1 and BRCA2 genes but not all of the mutations, if any, lead to an increased risk of breast and/or ovarian cancer.
It is very worrying that the most basic genetic concepts can get so screwed up in an otherwise comprehensive article about breast cancer genetics. While we continue to look forward to the benefits of personalized medicine, what hope do we have of understanding it all when even the fact-checked LA Times can’t get it straight? On the other hand, is it just too much to ask for accuracy? Is it ok to swap “gene” for “genetic mutation”? It is ok to pretend like a gene can only have one mutation? What level of understanding should we have in order to fully take advantage of the genome revolution?
Tags: genetics, genes, dna, brca, brca1, brca2, genetic testing, breast cancer, ovarian cancer, science, medicine, health

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Great post, Hsien-Hsien, you’ve made a clear and comprehensible explanation. Unfortunately, this kind of mistakes are quite frequent…
Thanks, Cesar. I hope I didn’t make a big out of nothing since the mix-ups in this particular article are so common. Guess yesterday was the day when I just couldn’t take it anymore!
Thank You Sherpa Hsien. This type of reporting is frustrating.
-Steve
http://www.helixhealth.org
[...] and biotech consultant Dr. Hsien-Hsien Lei notes how a recent article on cancer risk in the LA Times confused the terms “gene” and “gene mutation”l the newspaper then offered [...]
lol @ Sherpa Hsien
I probably would have just grumbled if I had only seen the original article but the correction they issued didn’t make things any better!
I tutor a genetics and general biology course (the second semester deals with the basics of genetics and evolution) and have had the same type of misunderstanding that occurred in this news article has happen to every single student I have tutored as well.
What a lot of students get confused on is how we have two alleles. The confusion is not so much on how two alleles are passed on, but how the dominance and recessiveness and allele expression occur. Thus, when the students hear that a certain gene can lead to a certain disease/disorder, the understanding is that if the person has this gene, they will get that certain disease/disorder. Once the student understands how mutations can occur and why they occur, they then begin to understand what is meant by a person has this certain type of gene that leads to that disease/disorder.
The average person out on the street can get confused very quickly when it comes to this type of information.
The other confusion that occurs is why some people don’t get a disorder if they have a certain mutation. To understand this, a person needs to have learnt about gene expression, frame-shift, mutation loci, protein function, etc. This is not easy information to understand for the average person.
A lot of the students that I tutor have never heard of the word gene. If they have heard of the word gene before, the majority of them struggle to define what a gene is.
Accuracy in reporting by the media is crucial to helping education the American public.
Maybe some of the genetic specialists could contact some of the bigger newspapers in the country and ask if they can write short and easy to understand articles about how genes can lead to a disease and how testing is done.
Just making a new medical school curriculum and education other health care professionals is not enough to help out with education the American people.
This is frustrating and something I am constantly dealing with at Ask a Geneticist. People just don’t understand that we have two versions of each of our genes and that there are different versions. So I end up writing that in almost every one of my answers which gets a bit dull for me but is critical to understanding so much of genetics.
It is scary that an important paper like the LA Times would get something like this so wrong. Makes you wonder about other facts they are presenting.
Incidentally, with copy number variation starting to look more and more like a big deal, we can’t just say we have two copies of each of our genes anymore.
Barry,
Excellent points. I routinely tell my residents now that mendelian genetics is going bye-bye. I don’t think we can keep teaching these outdated skill sets. It confuses physicians and gives them a false sense of confidence. I can only imagine how bad it screws up the lay public.
-Steve
http://www.helixhealth.org