Tag: brca2 genes

Bioethics Blogs

Genetic testing in women with a risk of tumour diseases

There is a passionate medical and ethical debate about whether genetic testing should be carried out on all women to detect whether they are carriers of BRCA genes, as carriers are known to have a much higher likelihood of developing breast cancer in adulthood. The topic was debated in a recent article in Annals of Internal Medicine (Ann Intern Med 160(4); 271-281, 2014), concluding that it should only be recommended in women with “family members who have breast, ovarian, tubal or peritoneal cancer”; however the aforementioned genetic test is not recommended in women with no family members with these types of cancers or mutations in the BRCA1 or BRCA2 genes.

La entrada Genetic testing in women with a risk of tumour diseases aparece primero en Observatorio de Bioética, UCV.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Chao and Womack on Patentable Subject Matter Rejections at the PTO

An article published last month on Law360 (behind paywall) discusses recent developments in the law of patent eligibility, which is enforced through Section 101 of title 35. We have covered patent eligibility issues on this blog before in connection with diagnostic patents and patents on isolated DNA, and these posts (and others) have a great deal of helpful background information on the applicable law. By way of a brief recap, Section 101 limits patent eligibility to processes, machines, manufactures, and compositions of matter. The courts have held, however, that even if a patent claim nominally falls into one of these categories, the claim is not patent eligible if it is directed to a law of nature, a product of nature, or an abstract idea. The courts have recently explained that, to survive a patent eligibility challenge, the claim must be directed to an inventive application of a law of nature or abstract idea. And if the material is alleged to be a product of nature, it must be markedly different from the natural counterpart.

The authors of the article, Professor Bernard Chao of University of Denver Sturm School of Law and Lane Womack of Kilpatrick Townsend & Stockton LLP, briefly survey the landscape of Section 101 case law and go on to discuss a few patent applications that the U.S. Patent and Trademark Office (PTO) recently rejected on patent eligibility grounds. Although the highest-profile patents are those that have been the subject of court cases, Chao and Womack—though based on an “admittedly unscientific and small sample”—show how the law works on the ground.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Weighing Surgical Options for Breast Cancer

Women in pink

Stock image

An increasing number of women with cancer in one breast are choosing to have both breasts surgically removed in hopes of reducing the chance of developing cancer in the unaffected breast. But does this approach—called bilateral, or double, mastectomy—really improve the odds of survival? A new NIH-funded study indicates that, for the vast majority of women, it does not [1].

A research team led by Allison Kurian, an oncologist at Stanford University School of Medicine, and Scarlett Gomez, an epidemiologist at the Cancer Prevention Institute of California in Fremont, used the California Cancer Registry to study the 10-year survival outcomes of patients diagnosed with early-stage cancer (stages 0–III) in one breast, between 1998 and 2011.

In this observational study, the researchers compared the outcomes of almost 190,000 women who chose one of three treatment options. The first is a lumpectomy, in which the surgeon removes the cancerous tumor and surrounding tissue, but preserves the rest of the breast. This is followed by radiation treatments. The second option is a unilateral, or single, mastectomy, in which the entire breast is removed. The third approach is bilateral, or double, mastectomy, which removes both affected and unaffected breasts.

The researchers documented that among women with early-stage breast cancer in this study, the rate of bilateral mastectomy jumped from 2 percent in 1998 to 12.3 percent in 2011. Among breast cancer patients age 40 and younger, that trend was even more dramatic, soaring from 3.6 percent in 1998 to 33 percent in 2011. The women most likely to choose double mastectomy were non-Hispanic whites of higher socioeconomic status with private health insurance.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Creative Minds: Interpreting Your Genome

Artist's rendering of a doctor with a patient and a strand of DNA

Credit: Jane Ades, National Human Genome Research Institute, NIH

Just this year, we’ve reached the point where we can sequence an entire human genome for less than $1,000. That’s great news—and rather astounding, since the first human genome sequence (finished in 2003) cost an estimated $400,000,000!  Does that mean we’ll be able to use each person’s unique genetic blueprint to guide his or her health care from cradle to grave?  Maybe eventually, but it’s not quite as simple as it sounds.

Before we can use your genome to develop more personalized strategies for detecting, treating, and preventing disease, we need to be able to interpret the many variations that make your genome distinct from everybody else’s. While most of these variations are neither bad nor good, some raise the risk of particular diseases, and others serve to lower the risk. How do we figure out which is which?

Jay Shendure, an associate professor at the University of Washington in Seattle, has an audacious plan to figure this out, which is why he is among the 2013 recipients of the NIH Director’s Pioneer Award.

A man smiling

Jay Ashok Shendure, M.D., Ph.D.

Shendure is already a pioneer when it comes to genomics. He helped to develop a faster, cheaper method of sequencing the genome that involves analyzing billions of DNA molecules simultaneously [1]. He led a team that figured out how to decode the exome—the 1% of the genome that encodes all the proteins—to identify genes causing rare, inherited disorders [2]. And, most recently, Shendure’s group showed that it’s possible to sequence the entire genome of a fetus from DNA harvested from the mother’s blood during pregnancy [3].

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.