In a landmark case today, the United States Supreme Court held that human genes are “products of nature,” and cannot be patented. I don’t know about you – but to me this seems like common sense.

However, like all things in life, the complexities are in the details. For instance, the Court also determined that composite DNA (cDNA) which is synthetically created is entitled to patent protection.  So what does all of this mean? And what is cDNA?

Let’s look at what we know:

·         Mutations in either BRCA 1 or 2 genes predispose a person to certain cancers including breast and ovarian cancer. 

·         These gene mutations can be passed down from generation to generation, from either the mother or the father’s side. 

·         With a genetic mutation in BRCA 1 or 2, a woman is five times more likely to develop breast cancer than a woman in the general population. 

·         Most important, we know that women diagnosed with breast cancer under the age of 40 are more likely to have these genetic mutations. They are therefore frequently referred for genetic counseling and testing.   

If you haven’t been following the Supreme Court case, here it is in a nutshell:  Myriad Genetics is the company that discovered the location and sequence of the BRCA 1 and 2 genes and developed a test to determine if a person has a mutation of either of those genes. (Side note: this is the test Angelina Jolie used that received so much media attention recently). Because Myriad held and enforced the patents on BRCA 1 and 2 genes, it was the ONLY company that could conduct testing for mutations.  These tests cost upwards of $3,000. So if you wanted to be tested for the mutation and didn’t want Myriad to do the testing or if you wanted a second opinion … it was not possible! Myriad was the only company allowed to do the testing.

In court, Myriad argued that the company’s discovery of the location of BRCA 1 and 2, as well as its ability to extract those genes for testing, entitled it to a patent on BRCA 1 and 2. The Supreme Court has now rejected those claims. The Court stated, “Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.” 

The Court did find that, “the lab technician unquestionably creates something new when cDNA is made.” It therefore, can be patented. What is not clear (to me) from the Court’s decision is the role of cDNA in Myriad’s testing and whether its finding that cDNA can be patented affects Myriad’s exclusive claims to BRCA 1 and 2 testing. 

As I see it, opening the door to healthy competition which could lower the cost of genetic testing and make it appropriately accessible to more young women would be a great outcome; allowing other companies to perform BRCA testing could allow people to obtain a second opinion – something that was not previously possible because of patenting; and this decision could aid breast cancer researchers by providing greater access to information related to BRCA 1 and 2. 

Regardless, the Supreme Court’s decision that human genes cannot be patented is an important one. It establishes precedent that no company owns the rights to BRCA 1, BRCA 2, or any other human gene – and that is important for all of us.

However, it remains to be seen how the Supreme Court’s decision will alter current practice. Young Survival Coalition is hopeful it means that Myriad and other companies will continue to invest in technology and testing that helps us to better understand the origin of and/or risk of developing cancer that would ultimately improve patient outcomes.

I guess the question that needs to be asked is – could this decision discourage companies from investing in other gene mutation identification and/or tests that we don’t even know about yet? I don’t know the answer – but I think the question is an important one to ask.

While many people are applauding the Supreme Court today, I am giving them more of a pat on the back. To me, not allowing the patenting of human genes seems like a no-brainer. In the end, patients need to be the number one focus of our medical community, not profits.

The entire text of the decision can be found here.

We’d like your opinion! Please leave a comment below and tell us what YOU think.

]]> http://www.youngsurvival.org/blog/?feed=rss2&p=3214 8 http://www.youngsurvival.org/blog/?p=3170&utm_source=rss&utm_medium=rss&utm_campaign=skip-the-blood-draw-genetic-counseling-101 http://www.youngsurvival.org/blog/?p=3170#comments Thu, 06 Jun 2013 17:12:50 +0000 Monique Martin, MPH, CHES, Health Education and Communications Specialist, Georgia Center for Oncology Research and Education http://www.youngsurvival.org/blog/?p=3170 Continue reading →]]> A couple of months ago I admittedly had no idea what genetic counseling was. I was familiar with genetics, and a person once told me I needed counseling, but I had no clue what a genetic counselor did. Genetic counselors are people with an advanced knowledge of genetics who are able to provide education on disorders like Down syndrome, Sickle cell anemia and hereditary breast and ovarian cancer. I have learned now that a genetic counselor can be a health educator, social worker, genealogist and your best friend when it comes to your health.

Increased awareness about health conditions is never a bad thing, but without knowledge, it can lead to fountains of misinformation. Panic may cause women to ask for genetic testing when they can avoid the blood draw altogether.

What is a Genetic Counselor?

Genetic counselors are health professionals with master’s and specialized degrees in genetics and counseling. They work in a variety of patient settings and come from diverse educational backgrounds including biology, psychology and public health. Genetic counselors work with people to collect family history to identify genetic predispositions to health conditions and then order genetic testing when appropriate. During a genetic counseling session, the counselor will discuss your personal and family history and then provide recommendations to manage any conditions that may have been discovered.

In addition to helping formulate a treatment plan, a counselor can discuss the emotional implications of the results and find resources for you and your family. Genetic counselors work as part of the health care team — helping patients manage their conditions alongside physicians.

Here are three things you should know about genetic counseling:

1. Genetic counseling sessions are interactive! They are more like conversations rather than lectures. Questions, comments and concerns are welcomed and help make you a part of your healthcare team.

2. Genetic counselors are not mind readers. Besides knowing your personal health history, learning as much as you can about you family history before a session can help make the discussion even more productive. Make a list of conditions that may run on either side of your family.

3. How much will it cost? Coverage for genetic counseling varies by state and by health insurance provider. Call your provider for your coverage details.

Do I need a counselor?

There are many online tools that can help you assess your risk of breast and ovarian cancer and help you determine whether you need to speak to a genetic counselor. www.BreastCancergenescreen.org is a web-based tool that uses personal and family history to quickly identify who would benefit from genetic counseling concerning the BRCA genes.

The National Society of Genetic Counselors (NSGC) can help you find a genetic counselor near you. More information on genetic counseling can be found here: http://www.geneticalliance.org/counseling.guide.

This is not a paid advertisement for genetic counseling, but since being introduced to the profession I have realized its value. Acting out of fear can lead to negative health outcomes. Seeking education from a genetic counselor can help raise awareness about heredity breast and ovarian cancer. It can also save time and money and help you avoid an unnecessary needle prick.

Editor’s Note: It is estimated that 5–10% of breast cancer cases result from inherited mutations, including those in the breast cancer susceptibility genes BRCA1 and BRCA2. These mutations are present in far less than 1% of the general population but occur more often in certain ethnic groups such as those of Ashkenazi (Eastern European) Jewish descent. Women with BRCA1 mutations are estimated to have a 44–78% risk for developing breast cancer by 70 years of age; the corresponding risk for BRCA2 mutations is 31–56%.¹

^1. American Cancer Society. Breast Cancer Facts & Figures 2011- 2012. Available at: http://www.cancer.org/acs/groups/content/@epidemiologysurveilance/documents/document/acspc-030975.pdf

In January 2013 YSC announced the launch of the new State Leader program.  Following a hugely successful initial launch with 31 state leaders, I am thrilled to report we have just accepted our second class that includes an additional 21 new volunteers.  In total there are 52 State Leaders located in 26 states across the country.  Ten of these states are brand new areas of outreach for YSC!

The YSC State Leader program links together a regional network of volunteer breast cancer advocates who are selected to represent YSC based on their experience and commitment to YSC’s mission.

State Leaders act as the link between YSC’s local communities (survivors, volunteers and health care providers) and the YSC Regional Field Manager staff.  Their contributions include identifying state resources, joining other key leaders on a Regional Leader Council and contributing to outreach, education and awareness activities throughout their region.

These experienced breast cancer advocates have shown an outstanding commitment to YSC and the women we support. The exceptional skills and talents within this group of State Leaders will make a significant impact on our reach and ensure that no young woman faces breast cancer alone.

Please join me in congratulating these remarkable State Leaders and, most importantly, thanking them for the outstanding work they do for YSC — without committed volunteers like our State Leaders, we would be unable to support as many young women affected by breast cancer.

I don’t think any young woman who has been told she has breast cancer will ever forget hearing those words. Some of us, like me, heard them over the phone and were not prepared for it at all. Others heard them in the doctor’s office surrounded by family. It doesn’t really matter — the impact is the same.

Chris Wragge, master of ceremonies, with the In Living Pink benefit committee and me (2nd from right).

However, last Friday night at YSC’s annual In Living Pink gala, as I looked across a room full of young survivors dressed to the nines, I temporarily forgot those four words.

There is something about dressing up, putting on your best clothes and jewelry you don’t normally wear and going out. Every woman knows how this feels, cancer or no cancer … it is the feeling of looking beautiful and knowing it. It is the feeling of energy that comes with your hair looking awesome and makeup looking perfect. It is the smiles you get from strangers who see you and think of the last time they were also dressed up and went out. To me, this is a celebration of life. It feels good.

I can say from experience as a constituent and as the CEO of the organization, YSC excels in everything it does to support and educate young women with breast cancer and fulfill its mission.

From left to right: Tabetha Kay from Liv/giant; Me; YSC Board President Lisa J. Frank; Steve Klein; Elysa Walk from Liv/giant.

In addition, I believe quality of life is an important part of our work. Quality of life means different things to different people — but I think it also is illustrated when a young women who has lost her hair or gained 40 pounds from treatment gets dressed up and feels amazing being surrounded by other people that get her … they don’t judge but, rather, empower. With these people you don’t have to answer questions about why you look different … they already know, and they don’t care!

So last Friday night, as the dance floor rocked with young survivors, doctors, friends and family late into the night, I felt proud of YSC. I felt proud of how YSC got to that point, and I felt proud to know that every young survivor there felt at home and happy at that moment — forgetting those four words … then I joined them on the dance floor!

We extend a special thank you to honorees Celgene, Liv/giant and YSC’s founding members; Chris Wragge, our master of ceremonies; Lisa Frank, YSC board president; Benefit Chairs Stephanie Pendray, Dayna Varano and Jean Won; the In Living Pink Benefit Committee; volunteers; donors and everyone who attended and made the event so incredible!

Photos from this event are available for viewing on our In Living Pink Pinterest board. (http://pinterest.com/youngsurvival/nyc-ilp/)

As I listened to the news this morning, I thought about my own bilateral mastectomy and its impact on how I thought about myself. Now, Angelina Jolie announced she’s had one and saying she won’t let such a life altering surgery steal her sexuality – why had I? Yes – of course it’s different, this was a preventive measure – but it’s certainly thought-provoking.

I was saddened to hear that Angelina had lost her mother to ovarian cancer and I know personally how much consideration and thought goes into a decision of a bilateral mastectomy. What I think is amazing is that she didn’t have to tell anyone … she could have kept it a secret. But she didn’t – she chose to tell the world, despite the fact that her brand has been built on other people’s perception of her sexiness.

I applaud Angelina’s efforts to raise awareness of the BRCA gene mutation by speaking out. Although I am slightly concerned that the messaging could create panic that all young women should be tested – which is not true. According to what we know today, BRCA (genetic) cancers only account for 5-10 percent of all breast cancer cases, a far cry from everyone.

However, everyone should ask questions about their family history and document all cancers and at what age they occurred on BOTH sides – maternal and paternal (Did you know it’s possible to inherit the BRCA gene mutation from your father?). If you are concerned, our partner organization Bright Pink, has created a tool to help you asses your risk, generating a report to take to your doctor. (http://www.brightpink.org/knowledge-is-power/assess-your-risk/). After using this tool, you and your doctor should talk about the next best steps, which should include speaking with a genetic counselor. This is a personal decision that you and your doctor will make together on a case-by-case basis.

Angelina was not diagnosed with breast cancer (thank God!) – but what about all of the young women, like myself, who have already been diagnosed? What does genetic testing mean for us? Again, your doctor should advise you if genetic testing is a good idea, so please make sure to have the discussion. I was diagnosed with breast cancer seven months after my mother was diagnosed, decided to have the test after genetic counseling, and found out I was NOT BRCA positive. This is information that my doctors and I use to make informed decisions about my treatment going forward – knowledge can be empowering.

Some of the concerns that young breast cancer survivors face every day can include body image issues, sexuality after cancer and the long-term effects of surgery. And it is hard. It is hard to feel sexy when you have no estrogen egging you on. It is hard to feel sexy when all you can see is the scars looking at you in the mirror. It’s hard to feel sexy when your body is no longer the body you once had. These are real issues and it is important to raise awareness of these survivorship issues and their impact on the quarter of a million young women who have been diagnosed with breast cancer in the US before their 41st birthday.

So as we watch the media unfold around Angelina’s choice to share this private decision, I hope that all of us use this news as an opportunity to encourage people to learn and ask questions about their own family cancer history and raise awareness that young women can and do get breast cancer. For those of you who have learned you have a BRCA gene mutation or would like to discuss concerns that you might be at risk with other young women in the same boat, YSC’s online community has a discussion group just for you: http://community.youngsurvival.org/index.php?/forum/9-risk-and-genetics/