<img loading="lazy" decoding="async" class="alignright size-medium wp-image-2057" title="DNA Strand" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg" alt="DNA Strand" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
A new genetic screening process has helped researchers understand the genetic causes of cancer, such as how mutations accumulated in a person&#8217;s life can cause leukemia.
The study compared a person&#8217;s own DNA to that of their cancerous cells. Using this technique researchers found DNA mutations that may have led to abnormal cell growth, or cancer.
Researchers at Washington University School of Medicine in St. Louis sequenced a single leukemia patient&#8217;s healthy and cancerous DNA. They were able to pinpoint several mutations out of hundreds that appeared likely to have contributed to his cancer&#8217;s development. He is the second patient with acute myeloid leukemia (AML) to have his entire genome and that of his cancerous tissue fully sequenced. Typically only the portions of the genome that are known to be prone to cancer-causing mutations are sequenced.

“If we only look at genes with known or suspected links to cancer, we’ll miss many mutations that are potentially relevant,” co-author Richard Wilson said in statement.
The study by Mardis et al., published in The New England Journal of Medicine,  identified a total of 750 mutations in the patient’s AML genome. Most of them proved irrelevant. However, 64 were likely to be cancer-related. Two previously known mutations were newly linked to leukemia.
<h6>Personalized Sequencing</h6>
Timothy Lay, the senior author of the study, explained that most patients with this type of leukemia are treated similarly, at least in the beginning. This study&#8217;s patient, for example, received various chemotherapy drugs. Defining cancer mutations could help determine which patients need aggressive treatment. So, for example, a stem cell transplant, which could be effectively treated with less intense therapies.
Personalized sequencing of entire cancer genomes is possible now because the accuracy and cost of genome sequencing technology has dramatically improved. This study took only a few months at one-third the cost of the first AML patient, who was sequenced only one year ago.
To date 350 cancer mutations are known, but thousands of cancer genomes will need to be screened to truly explain the genetic basis for cancer. This information could be used not just to guide physicians to the most effective treatment, but also to inform patients about their prognosis.
<h6>Living in the Know</h6>
But do patients even want to know?
A recent study published in the  Journal of Genetic Counseling suggests they do. Researchers found that 98 of 99 patients with ocular melanoma, a rare, untreatable eye cancer, wanted to know. Even if their cancer had a genetic marker that gave them a 50 percent chance of dying within five years. Patients were relieved when the risk was low. However, even when the risk was high they were enabled to plan financially and make the most of their time alive.
This very personalized medicine will continue to be driven by improved diagnostic testing, according to James Downing in a recent editorial in The New England Journal of Medicine. This will identify more predictive disease markers, and lead to new therapies directed at cancer-specific mutations. He believes this technology will likely be used clinically long before we have a complete knowledge of cancer genes.

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Revelations from Sequencing of Second Cancer Patient

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2073" title="studentdna" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/studentdna.jpg" alt="studentdna" width="350" height="233" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/studentdna.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/11/studentdna-300x200.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
It&#8217;s not enough to teach genetics, says Michael Dougherty, director of education for the American Society for Human Genetics.   It has to be taught in the right way.
&#8220;Current teaching practices may be producing a public that is unprepared to participate effectively as medical consumers in a world where personalized medicine will rely increasingly on genetic testing, risk assessment, predispositions, and ranges of treatment options that include biological and behavioral components,&#8221; writes Dougherty in an opinion piece published online today in the <a href="http://www.cell.com/AJHG/abstract/S0002-9297(09)00208-0" target="_blank" rel="noopener noreferrer">American Journal of Human Genetics</a>.
Dougherty calls for curriculum reform at all levels, from middle school all the way up through undergraduate education. The key, he says, is for students to understand that the genetics of most human traits and conditions are complex and, with only rare exceptions, not deterministic.
Dougherty suggests a new genetics curriculum that begins with lessons on traits that show continuous variation, such as height and weight, and focuses on how multiple inherited and environmental factors can affect these traits.   Teachers could then move on to discussions of genes and the molecular details of how they are passed from generation to generation.   Only here, in the later stages of their genetics education, would students learn about the rare single gene diseases, such as <a href="https://www.23andme.com/topics/carrier/cystic-fibrosis/">cystic fibrosis</a> and <a href="https://www.23andme.com/topics/carrier/phenylketonuria">PKU</a>, that make up the bulk of today&#8217;s genetics lessons.
&#8220;Our incompleteness of understanding and the messiness of complex-trait examples are poor arguments for maintaining the status quo in our genetics classrooms.   We know on theoretical grounds that the entirety of phenotype is defined by genes and environment, and substantial uncertainty still characterizes both.   To pretend such uncertainty does not exist is to deprive students of an appreciation of both modern genetics and the nature of science.&#8221;
Dougherty points to the Genes, Environment and Human Behavior module, funded by the Department of Energy and available from BSCS, as an example of the kind of lesson that could help correct the misconceptions that students already have.   The National Human Genome Research Institute also has available a <a href="https://www.genome.gov/10001551" target="_blank" rel="noopener noreferrer">Human Genetic Variation curriculum supplement</a>.   And of course, you can always check out the <a href="https://www.23andme.com/gen101/" target="_blank" rel="noopener noreferrer">Genetics 101</a> section of the 23andMe website for a basic introduction to genetics.

Curriculum Reform Needed For An Informed Public When It Comes To Genetics, Expert Says

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1965" title="hivvirus" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/hivvirus.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/hivvirus.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/11/hivvirus-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
In a way, organ transplantation is the one branch of medicine that has already been personalized, because doctors must carefully match the immune systems of donor and recipient to prevent rejection.
Now transplant physicians in Germany have taken that procedure a step further by engineering not just a successful bone marrow transplant, but one that appears to have cured their patient&#8217;s HIV infection as well. The doctor who conceived the operation has suggested that in principle, the accomplishment could inspire a gene therapy for HIV. But it will take much more research, and a lot of luck, for that to happen.
This week Dr. Gero Huetter and his colleagues at the Charite Hospital in Berlin announced that they were treating a 42-year-old patient who required a bone marrow transplant for leukemia, but had also been HIV-positive for a decade.
The doctors knew of a gene, CCR5, that confers resistance to the most common form of HIV. People who have a particular mutation, known as Delta32, on both copies of CCR5 can be exposed repeatedly to HIV-1 without becoming infected.
The doctors reasoned that if they could find a donor who was not only immune compatible with their patient, but also had two copies of the Delta32 mutation in the CCR5 gene, perhaps they could simultaneously eradicate his leukemia and his HIV infection.
Remarkably, such a donor existed. And 600 days after his bone marrow transplant, the patient is both leukemia- and HIV-free.
Is this a cure for AIDS? Not a chance. Doctors do not consider the procedure a potential treatment for HIV, because bone marrow transplants are expensive and risky – about one patient in four does not survive the procedure. But the case does provide inspiration and hope for researchers who are working on ways to harness the resistance conferred by CCR5Delta32 to treat the infection.

personalized medicine — Page 2

Revelations from Sequencing of Second Cancer Patient

Curriculum Reform Needed For An Informed Public When It Comes To Genetics, Expert Says

Bone Marrow Transplant May Have Eradicated Patient’s HIV

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