Genetic Counseling Updates
Spring 2013
Greenville Hospital System, Genetic Counseling
Greetings,
You are receiving this newsletter because you are a former/current patient with the Genetic Counseling department of the Greenville Hospital System. Our understanding of genetics is constantly evolving –due to newer technologies, recent scientific discoveries, and increaseddialogue within the medical/genetics community.
The following is a summary of the most useful and timely “Updates in Genetics” that might assist you in your healthcare understanding and potential medical management decisions. As always, genetics is a family-focused practice, and we continue to encourage you to share any of the following updates that might also assist your family members.
If you desire further explanation about the following information– or would like to schedule an appointment – do not hesitate to contact us.
Sincerely,
Bridgette Aufmuth, MS, CGC
Lindsay Metcalf, MS, CGC
Jade Cognetti, Genetic Counseling Intern
Phone: 864-455-5836
Cancer Panel Testing: An option after receiving negative BRCA1/2 results
Ambry Genetics has recently released four sequencing panels named BreastNext, OvaNext, ColoNext, and CancerNext. These panel tests use new technology (called next-generation sequencing , or NGS) to simultaneously analyze multiple genes. Each panel tests a collection of genes in which mutations have been shown to increase risk for the certain cancers. For example, the BreastNext panel analyzes 14 genes known to increase susceptibility for breast cancer. The ColoNext panel analyzes 14 genes known to increase susceptibility for colon cancer.
Please note that the BreastNext panel is indicated for those individuals who have already received negative BRCA1/2 mutation testing – the BreastNext panel does not include the BRCA genes.
If you are interested in learning more about this testing, please contact us to discuss in further detail. Information can also be found on the Ambry website under:
BRACAnalysis Large Rearrangement Test (BART) is Now Covered by Medicare
As of October 2012, Medicare has updated its policy to include BRACAnalysis Large Rearrangement Test (BART) in its coverage of BRACAnalysis. BRACAnalysis is the name of the test that analyzes the BRCA1 and BRCA2 genes associated with hereditary breast cancer. BART also analyzes these same genes, but uses a slightly different method that looks for large rearrangements, deletions, and insertions of DNA material.
If BRACAnalysis is like looking for a typo or misspelled word in a book, BART is like looking for an entire missing, extra, or misplacedchapter. It has been shown that BART mutations account for 6-10% of all Hereditary Breast and Ovarian Cancer (HBOC) mutations identified.
Please contact us if you have previously received negative BRCA1/2 mutation results using Medicare insurance and are now interested in pursuing BART testing. For those who do not have Medicare and have been denied BART, note that The National Comprehensive Cancer Network (NCCN) has released guidelines recommending that all patients who meet criteria for standard BRCA1 and BRCA2 testing should also have BART analysis. Based on this information, it is likely that more insurance companies will now cover the cost of BART analysis. Please check with your insurance provider regarding their coverage of this test.
TRICARE Reinstates Coverage for BRCA1 and BRCA2
In August of 2012, TRICARE announced that they will reinstate coverage for BRCA1 and BRCA2testing for eligible patients as of September 30, 2012 and will be retroactive to May 22, 2012. If you have TRICARE and were previously denied coverage for BRCA testing, please contact our office to discuss potential testing.
In the News:
Time Magazine (December 24, 2012) covers how a new era of sophisticated DNA testing can discover more health information about children than ever before.The article poses, “Think about it for a minute: would you want to know if your toddler has an increased risk of getting cancer?” Time has released a series of articles covering current DNA sequencing, which can be found here:
Fifteen-year-old Jack Andraka recently won the world's largest high school science competition for his development of a new, cheap and accurate test fordetecting pancreatic cancer. Jack speaks about his research and quest for a cure during his TED talk here:
(or search: Jack Andraka TED Talk)
Resource Spotlight:
- Phone “Apps” for Breast Cancer:
“i-Breast walks you through your breast cancer pathology report and other tests and information that you and your doctor will use to help decide which treatments are right for you.”
- Colorectal Cancer Education & Support:
“Our goals are to educate as many people as possible, as early as possible, about the risk factors and symptoms of colorectal cancer, and for people to get screened when it's appropriate for them.”
- Confronting Pancreatic Cancer:
“Taking an aggressive rational stance against pancreas cancer, at the earliest possible time, supported by the best medical team, and treated in the most appropriate manner gives the best chance for pancreatic cancer survival.”