PUBLIC RELEASE DATE:
25-Nov-2014
Contact: Amy Blustein ablustein@wihri.org 401-681-2822 Women & Infants Hospital @womenandinfants
There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in the U.S. and more than 40,000 deaths, it is clearly important to be able to determine which women may be genetically predisposed to breast cancer.
Glenn E. Palomaki, PhD, associate director of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island has recently published an invited commentary in the November issue of Genetics in Medicine. The commentary is entitled "Is it time for BRCA1/2 mutation screening in the general adult population? Impact of population characteristics."
A family history of breast or ovarian cancer or a personal history of early-onset cancer are strong risk factors for breast cancer. Systematic criteria when caring for a patient with a positive family history have been well established by such agencies as the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network.
Dr. Palomaki said, "With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and population impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA2 mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction."
In his commentary, Dr. Palomaki cited two recent publications that present perspectives on routine, population-based screening for breast cancer using BRCA1/2 mutations in different populations.
"Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening," said Dr. Palomaki. "Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population screening, as least for the moment."
###
Link:
Pathology specialist contributes to debate on breast cancer gene screening
- IOM not webcast today. Why Not? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- National Academies skeptical at Best. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Some Confusion Exists [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Why DTC Genomics IS Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- First Mari, Now Linda. Who's next? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Is it true? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Re-Reviewing the National Academies [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- The problem with nonclinicians....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Crazy Night of Emails to Government [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Adrienne Carlson's Personalized Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Tell Me, How do you feel now? Sherpa's RX [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- This Just In. 23andMe to go to GPs. I love my readers!! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Sorry so long away [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- 2D6 Rears its ugly head..... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Ok, Fine, Back to Plavix [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Kaiser a protoype for Collins' Aim [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- A few months late to the party.... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Stated Another Way....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Excuse Me? Harvard and Navigenics? WTF? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer??? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Did you get your kit? Thanks Dr. Rob from MedCo [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Gluco...Wha? Parkinson's Disease and Glucocerebrosidase mutations. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Change IS Needed. I agree with William, sometimes. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Good Enough Science? Apparently so at 23andme [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Long QT Syndrome, location matters [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Congratulations Generation Health. Nice pick up! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- An argument 23andSerge can't win...23andme but not medicine [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Stop. Breathe. Repeat. An analysis of the direction of DTC Genomics Field. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- You can't have it both way. Either scared your genome is sold off or not. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- 15 Days Away Gives Time for Perspective. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- What about the SACGHS registry? Another missed opportunity? [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- AJHG is in and my Favorite Muin is in it! But He Is NOT the Father! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Navigenics for 23andMe prices? [Last Updated On: December 18th, 2009] [Originally Added On: December 18th, 2009]
- Lp(a) Maybe there's something there that wasn't there before? [Last Updated On: December 24th, 2009] [Originally Added On: December 24th, 2009]
- Another Year, Another Bankruptcy [Last Updated On: December 31st, 2009] [Originally Added On: December 31st, 2009]
- 5 Technologies going bye bye in this decade? [Last Updated On: January 6th, 2010] [Originally Added On: January 6th, 2010]
- Hackers, HITECH and HIPAA in DTC Genomics, Oh My! [Last Updated On: January 7th, 2010] [Originally Added On: January 7th, 2010]
- Personal Genomics Flop.....big Belly Flop! [Last Updated On: January 8th, 2010] [Originally Added On: January 8th, 2010]
- Gotta Love It. Even the daycare....... [Last Updated On: January 11th, 2010] [Originally Added On: January 11th, 2010]
- Congratulations Navigenics. You ARE a clinical lab! Uh-Oh... [Last Updated On: January 12th, 2010] [Originally Added On: January 12th, 2010]
- CETP, Jewish Centenarians and Alzheimers [Last Updated On: January 14th, 2010] [Originally Added On: January 14th, 2010]
- Enter the "Not" DTC Genomics Rep [Last Updated On: January 17th, 2010] [Originally Added On: January 17th, 2010]
- Why Dr. Vanier's Navigenics appointment is good for PM [Last Updated On: January 22nd, 2010] [Originally Added On: January 22nd, 2010]
- Holy Crap! MedCo Follows in CVS footsteps [Last Updated On: February 3rd, 2010] [Originally Added On: February 3rd, 2010]
- FDA, Warfarin, still not as sexy to me. [Last Updated On: February 5th, 2010] [Originally Added On: February 5th, 2010]
- Hype, Hype, Hype from a single study. [Last Updated On: February 11th, 2010] [Originally Added On: February 11th, 2010]
- I love my readers, even Renata M! [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- How can insurers use DTC genomics to profile? [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- 9p21.....ahem. Paynter et.al. Smackdown. Again. [Last Updated On: February 18th, 2010] [Originally Added On: February 18th, 2010]
- Hey! It's Pete Hulick! Are you Going to GET? [Last Updated On: February 19th, 2010] [Originally Added On: February 19th, 2010]
- I was wrong......AHEM [Last Updated On: February 28th, 2010] [Originally Added On: February 28th, 2010]
- G2C2, finally a tool for genomic education! [Last Updated On: March 2nd, 2010] [Originally Added On: March 2nd, 2010]
- Just 4 million? What 23andMe is worth. [Last Updated On: March 5th, 2010] [Originally Added On: March 5th, 2010]
- What a difference a year makes [Last Updated On: March 9th, 2010] [Originally Added On: March 9th, 2010]
- ........DTC Genomic Medicine? [Last Updated On: March 12th, 2010] [Originally Added On: March 12th, 2010]
- The FDA, 2c19 and the ACC [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- The problem with Comparative Whole Genomics...... [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- BRCA testing by 23andME is the same as Myriad Genetics. [Last Updated On: March 15th, 2010] [Originally Added On: March 15th, 2010]
- The Argument Against DTC Genomics Marketing and such [Last Updated On: March 16th, 2010] [Originally Added On: March 16th, 2010]
- A moment of Clarity. Some DTCG is not bad. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- SNPs for breast cancer risk? It Depends. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- How can MDVIP use Navigenics Test for Medicine? [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- Why did P&G invest in Navigenics? [Last Updated On: March 23rd, 2010] [Originally Added On: March 23rd, 2010]
- PGx in DTCG? Doesn't stand up to Useful testing. [Last Updated On: March 25th, 2010] [Originally Added On: March 25th, 2010]
- End of Gene Patents? [Last Updated On: March 29th, 2010] [Originally Added On: March 29th, 2010]
- Sherpa Accepting Chief Medical Officership [Last Updated On: April 3rd, 2010] [Originally Added On: April 3rd, 2010]
- The Rumors of My Death........ [Last Updated On: April 20th, 2010] [Originally Added On: April 20th, 2010]
- Happy DNA Day! [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 99 USD, DNA day and patient letters [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 2C19, Navigenics and Clinical Reality. [Last Updated On: May 1st, 2010] [Originally Added On: May 1st, 2010]
- Coriell Personalized Medicine Collaborative rising [Last Updated On: May 7th, 2010] [Originally Added On: May 7th, 2010]
- Personal Genomes in Clinical Care. Quake paper is a waste! [Last Updated On: May 11th, 2010] [Originally Added On: May 11th, 2010]
- Personal Genomes in Clinical Care. Quake paper Falls Short! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- Last post edited by Drew [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? FCUK U! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? F! U! [Last Updated On: May 15th, 2010] [Originally Added On: May 15th, 2010]
- Potential of genomic medicine, LOST [Last Updated On: May 19th, 2010] [Originally Added On: May 19th, 2010]
- How Bad Can a House Investigation be for DTC Genomics? [Last Updated On: May 20th, 2010] [Originally Added On: May 20th, 2010]