Tuesday, July 25, 2017

Diving Deep with Patient Advocates by Guest Blogger Ellen Matloff, MS, CGC

Ellen Matloff, MS, CGC
I’ve been a certified genetic counselor for over 20 years, working in pediatrics, general genetics, cancer genetics, and now as the CEO of my own company, My Gene Counsel.  I have counseled thousands of patients and their families over these two decades, have run patient support groups, and have created and produced a podcast of patient stories.  

At this point in my career I’m considered a seasoned genetic counselor.  
At this point, shouldn’t I know everything there is to know about patients?   No.

I continue to be reminded that patient care is complex and evolving.  There is always more to learn.  I’ve never been reminded of this more than in the patient advocacy community.  There are different types of patient advocates.  Some are health care professionals who advocate on the behalf of patients.  The patient advocates I speak of in this blog are instead patients, who advocate on behalf of themselves, their families, and the greater community of patients – particularly of patients who have the same condition or predisposition.  

Over the past 3 years I have become involved in several genetics advocacy communities, especially those associated with hereditary cancer.  My immersion into these communities has taught me, and reminded me, of many valuable lessons.  
  • We, as cancer genetic counselors, counsel patients on their risks, sometimes help them choose a surveillance plan and/or prophylactic surgery, and often see them through that procedure.  We hope that our patients have avoided a cancer diagnosis, and that everyone lives happily ever after.  This is not always the case.  

We know this, of course, as health care providers, but being immersed in the advocacy community you really see the long-term impact of these risk-reduction decisions.  Patients live with these major medical decisions for the rest of their lives.  Many of them battle negative effects that can be associated with surgically induced menopause, plastic surgery, and reconstructive surgery.  They carry scars, physical and emotional, of the testing process and the decisions that followed.  Many of them are grateful to have had the chance to make an informed decision and to avoid a first, or subsequent, cancer diagnosis.  But some of them feel that the resulting outcomes were not worth reducing the risk of cancer development – even if they feel guilty for admitting that.  As health care providers we focus on the cancer risk reduction – and that is clearly important – but there is more to be measured here, including the impact on quality of life, emotional, physical, and psychological well-being.  And quite likely there will be a trade-off for patients who choose these medical interventions – both short- and long-term.  Patient advocates are there to remind us of this.

  • Genetics and medical care is personal for these advocates. Be careful what you say and how you say it.

Two of my advocate friends recently attended a medical conference and a well-known speaker scoffed that ‘prophylactic mastectomy is an easy surgery.’  Perhaps he meant that procedurally a mastectomy is an easier surgery than a colectomy or an oophorectomy, in that breast tissue is not near major organs that can be injured.  These two advocates didn’t hear it that way.  One of them has personally experienced a prophylactic mastectomy, and they both have worked with countless patients who’ve had these surgeries, some of whom have experienced difficult physical and/or emotional recoveries.  This comment rubbed them as calloused, insensitive, and hard-hearted – particularly coming from a male physician who has no idea, on a personal level, of what these patients have experienced.  Whenever you give a lecture remember: in this age of technology and social media, it is most likely that a patient is hearing, or will hear your words.  In fact, he or she may be live tweeting them out.

  • Patients want to be treated like intelligent, respected partners.  No one is more invested in forwarding the field than the advocates. 

Gone are the days when it is acceptable to leave your patient sitting in the waiting room for hours, and then call them in and tell them how it’s going to be.  Genetic counselors as a whole have never bought into this paternalistic style of medicine, but now even we have to up our games.  Many of these patients are smart, they’re invested, and there is a pretty good chance that they’ve read the latest journal article before you have – welcome to the world of patient advocacy via Facebook, Twitter, and Instagram. Of course, most patients don’t have medical backgrounds and they will likely need help deciphering the information, but they are on top of their game and want to be considered partners in the decision-making process.  We should treat them as such.  

  • Speaking of forwarding the field --- advocates want their data freed.

Patient advocates are smarter, savvier, and better informed than ever.  They want their genetic data shared to benefit research and the care of other patients, and they won’t settle for anything less.  Companies who have previously taken advantage of patient naivete beware: advocates are partnering and banning together to free their data.  Don’t stand in their way.


Medicine is changing rapidly and patients are becoming partners in, and consumers of, health care.  Are you creating a clinical trial?  Developing a patient intervention or materials?  Or starting a company in the health care sector?  My best advice to you is to bring on patient advocates as your partners from the start.  Their perspective is vital.

Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.
Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plantiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology.
As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively.

Monday, May 15, 2017

Breast Implant Safety - by Guest Blogger David A. Lickstein, MD FACS

David A. Lickstein, MD FACS
Board Certified Plastic Surgeon
To learn more about Dr. Lickstein please visit: 

Breast Implant Safety 

A New York Times article this week regarding breast implant associated anaplastic large cell lymphoma (BIA-ALCL) has concerned many patients and led to a lot of phone calls and questions.  The article referred to an update issued in March of this year by the FDA.

While this recent report caught the attention of the media, this is not a new entity, and the FDA issued the first report of a possible association in 2011.  To be clear, this is not breast cancer.  Although classified as a lymphoma, current research suggests that BIA-ALCL may be eventually be reclassified as a lymphoproliferative disorder.  The World Health Organization recognized the condition as an entity in 2016, and treatment guidelines were standardized by the NCCN (national comprehensive cancer network) for the first time this year.

To date, the condition is extremely rare.   It is estimated that between 10 and 15 million women worldwide have breast implants.  359 cases have been reported.  9 deaths have occurred.  It is not certain if the data is completely accurate for these cases as the reporting methodology has significant limitations.  Early reports of deaths attributed to the condition may have been affected by difficulty making the correct diagnosis.  232 reports contained information about the type of implant used.  What is new information is that the latest FDA report implicated the textured surface of implants.   There were no cases reported with exposure to only a smooth device.   The fill of the implant, silicone or saline, had no impact on the development of the condition.  

Your practitioners should now be aware of the condition, and understand the symptoms, diagnosis, and recommended treatment.  Discussion of the condition should be included in the informed consent process for surgery for any patient considering placement of implants for cosmetic or reconstructive reasons.  It is also worth noting that many of the tissue expanders used in breast reconstruction have textured surfaces.   

The condition presents as swelling of the breast, between 2-10 years after insertion of the implant.  Patients with suspected cases of BIA-ALCL should have fluid sampled from the area around the implant and tested for the CD-30 marker.  Patients diagnosed promptly, without evidence of lymph node involvement have been cured by removal of the implants and surrounding capsule.  

The proposed mechanism at present involves interplay between the surface of the implant, the immune response of the patient, possible bacterial coating of the implant, and potential genetic predisposition to the condition.  Studies in a series of cases have demonstrated a thin coating on the implants, also known as biofilm, with a rare bacteria.  Textured implants have a greater surface area, and more potential for bacteria to adhere to the surface of the implant.  Plastic surgeons have known for some time that biofilm may cause a chronic inflammatory response, and contribute to capsular thickening or contracture.  It is quite possible that in certain predisposed patients, or with certain types of bacteria, the chronic inflammation progresses past capsular tightening to BIA-ALCL.  

The FDA has not recommended implant exchange or removal for patients with textured implants who are free of symptoms, as this remains a very rare condition.  
If you currently have implants:
  • Follow up with your plastic surgeon yearly.  They will advise you regarding recommended imaging studies and any new information available.
  • Pay attention to any changes in your breasts, and seek evaluation if the breast becomes swollen
  • Make sure you are aware of the type of implant you have
  • Communicate any concerns with your plastic surgeon, and treatment team
The most current information is available on websites for the FDA, American Society of Plastic Surgeons, and the American Society for Aesthetic Plastic Surgery. 





Friday, January 27, 2017

UCSF Center for BRCA Research presents screening of Pink & Blue: Colors of Hereditary Cancer

Community Event: Film Screening and Panel on Hereditary Cancer

On February 13, 2017, the UCSF Center for BRCA Research presents a film screening of Pink & Blue: Colors of Hereditary Cancer, a documentary chronicling the effects of BRCA on men and women. Prior to the film, join us for a reception and special panel of hereditary cancer experts featuring Dr. Alan Ashworth, who appears in the film and is known for his research contributions to BRCA and BRCA-related cancers.

FILM SCREENING AND PANEL 
PINK & BLUE: COLORS OF HEREDITARY CANCER
Monday, February 13, 2017  |  
6:00 pm - 9:00 pm

REGISTER

 
UCSF Mission Bay, Byers Auditorium
Genentech Hall, 600 16th Street
San Francisco, CA 94158


We welcome patients, former patients, survivors, caregivers, as well as local community members! There is no cost to attend, but please take a moment to register for the event.
About the Film

Pink & Blue: Colors of Hereditary Cancer is an emotional journey that takes us through the lives of women and men who are dealing with genetic mutations (BRCA 1 and 2) and their related hereditary cancers.

We meet the doctors and their patients who make the tough decisions on whether to have preventative surgeries or not. Director Alan M. Blassberg tells the story of how this disease ripped his family apart and what he must face as a BRCA 2 positive male. The film highlights the message that men carry this mutation half the time and that this lack of information is deadly. There is a higher percentage of MEN dying from breast cancer than women.
World-renowned specialists from the UCSF Helen Diller Family Comprehensive Cancer Center (Alan Ashworth, PhD, FRS), Cedars-Sinai, Basser Center for BRCA, and the Pink Lotus Breast Center (including Dr. Kristi Funk, MD, who is Angelina Jolie's surgeon) weigh in with the latest information on BRCA mutations, breast cancer, and the various changes that can be addressed for male patients.