telemedecine genetic testing for breast cancer · telemedicine •means "distance...
TRANSCRIPT
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TELEMEDECINE
Genetic testing for breast cancer
Chirag Jani MD. ABHPM. FACP
Medical Director
Chairman, COC and NAP BC
Phoebe Cancer Center
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Agenda
• Defining Telemedicine • History • Successful Uses
• Our Project and outcomes • Regulatory Information • Requirements for Telegenetics • Current and Future state
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Telemedicine
• Means "distance healing“.
• Derived from a Greek word "Tele" meaning "distance" and a Latin word "mederi" meaning "to heal“.
• Use a specific technology to provide healthcare services
Telemedicine is the future of global healthcare.
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Telehealth vs Telemedicine?
Per WHO:
Telehealth-uses computer-assisted
telecommunications to support management,
surveillance, literature and access to medical
knowledge
Telemedicine-solely to diagnose and treat
patients
Used interchangeably by most
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“TELEGENETICS PROVIDES HEALTHCARE WHERE THERE IS NONE AND IMPROVES THE HEALTH CARE WHERE THERE IS SOME”
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History of Telemedicine
1905
William Einthoven transfers
electrocardiograms electronically
1960s
First used by NASA to monitor health of astronauts in space
1990s
Telemedicine matures; wide-
spread acceptance of teleradiology
practices
Now
Telemedicine seen as a viable means
for improving access, decreasing
costs.
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Telemedicine Application
Home Care and Ambulatory
Remote Consultation and Critical Care Monitoring
Medical Education and Public Awareness
Second Opinion/TELEGENETICS
Telementored Procedure/ Robotic Surgery
Disaster Management
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Types of Telegenetics
Real-time (synchronous)
Store and Forward (asynchronous)
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Specialties in Telemedicine
10
Internal Medicine Neurology Oncology/Hematology Genetics Ophthalmology OB/GYN Pediatrics Psychiatry Pulmonology Rheumatology Surgery Urology
Allergy/Immunology Anesthesia Cardiology Critical Care Dermatology Otolaryngology (ENT) Emergency Medicine Endocrinology Family Practice Gastroenterology Infectious Diseases
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“60-80 % of ER, urgent care, and doctors visits can be handled safely and effectively over the phone. -American Medical Association
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“To date, no studies have identified any patient subgroup that does not benefit from, or is harmed by mental healthcare provided through remote video conferencing.”
12
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Growth of Telemedicine Globally
$13.8 billion
2012 Market Size
$9.8 billion
2010 Market Size
278% Growth Rate Expected Between 2010-2019 Research
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Advantages of Telegenetics
• Resource utilization
• Early intervention
• Avoids unnecessary transportation
• Community based care
• Medical education and research
• Cost saving
• Improved patient documentation
• Increased range of care and education.
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Resource Utilization
• In underdeveloped countries doctor population ratio is 1:20000 in comparison to 1:500 in developed nations, and these doctors are not distributed equally.
• 80% of population lives in rural and semi urban areas.
• Telemedicine can help in cost effective utilization of meager resources and of the same time can decrease patient work load on few referral centers.
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We look more like this
….than that
OUR PROJECT
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4 Year Snapshot
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Telemedicine System
• ACTUALLY WHAT HAPPENS DURING A TELEMEDICINE PROGRAM?
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Clinical Process in our Clinic
CLINIC
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Gene Breakdown
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Evaluation: Financial Impact
• Utilization patterns
• Missed work/school days
• Direct and indirect cost savings
• ROI
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Early Intervention
• There are factors that inhibit the continuity of care. Issues such as geographic location, inclement weather, socioeconomic barriers.
• Patient apathy are significant factors that delay and even prevent the specialty care.
• By providing these sites with the ability to quickly access specialty consultation services.
• Patients are able to reap the benefits of early intervention while the health care system maintains quality service and clinical efficiency.
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Avoids Unnecessary transportation
• Patient can discuss the issues on Video Conferencing with the consultant.
• Even the vital parameters and be captured with the help of devices and sent to doctor.
• Unnecessary referral and patient transport can be definitely avoided.
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Community base Care
• People like to receive high quality care in their local community.
• This reduces travel time and related stresses associate with many referrals.
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Barriers of Telecommunication
• Low or small bandwidth. • Neither telephone lines nor electricity in rural and
remote areas. • Satellite transmission can help but it is very costly. • Unstable electricity supply. • Patient’s fear and unfamiliarity. • Financial unavailability. • Lack of basic amenities. • Literacy rate and diversity in languages. • Quality aspect. • Government support.
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Sporadic vs. Genetic
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• Germline – the genes you are born with
– Can be passed on to relatives
– Does not mean that disease will happen
– Increased risk of disease
– There is no one “breast cancer gene”
• Somatic – changes in tumors that are acquired over time
– Can not pass on to relatives
– Can be tested as part of decision making for therapy for cancer
Germline vs Somatic Genetics
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• Breast cancer <45
• Ovarian cancer cases (particularly high grade serous)
• Male Breast Cancer
• Breast and ovarian cancer in a single lineage
• 2 or more women with breast cancer <50
• Ashkenazi Jewish with breast or ovarian cancer
• Breast cancer < 60 and triple negative
• Bilateral breast cancer <60
• Pay attention to pancreatic cancer and high grade
prostate cancer
• Ashkenazi Jewish individuals?
Who should be considered for testing?
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• Risk Assessment
• Disease Prevention
• Therapeutics
Germline genetic testing as a paradigm
for individualized care
BRCA1/2 as the prototype
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Increased risk of other cancers:
Male breast cancer BRCA2>BRCA1
Pancreatic cancer BRCA2
Prostate cancer BRCA2
Melanoma BRCA2
Breast cancer: 50%-70%
Second primary breast cancer: 40%-50%
Ovarian cancer: 15-55% BRCA1>BRCA2
BRCA1/2-associated cancers: lifetime risk
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Genetic testing has become complicated….
Single nucleotide polymorphism panels
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• Not comprehensive sequencing of genes – such as BRCA1/2
• Not a stand alone for those with a strong family history
• Some change in reclassification (change in how you
consider someone from a risk perspective)
• Calibration: How closely the predicted probabilities agree
with the actual outcome
• Clinical utility (or actionability?) – Will more women take tamoxifen?
– How should this impact screening in the era of changing screening
recommendations?
• Ongoing studies
Key Points
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In the US - this has become very complicated….
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Gene Myriad MyRisk
Ambry Cancer Next
Invitae GeneDx Uwash BROCA
Fulgent*
# of genes 25 28 28 30 50 110
APC x x x x x x
ATM x x x x x x
BMPR1A x x x x x x
BRCA1 x x x x x x
BRCA2 x x x x x x
BRIP1 x x x x x x
CDH1 x x x x x x
CDK4 x x x x x x
CDKN2A x x x x x x
CHEK2 x x x x x x
EPCAM x x x x x x
MLH1 x x x x x x
MSH2 x x x x x x
MSH6 x x x x x x
MUTYH x x x x x x
NBN x x x x x x
PALB2 x x x x x x
PMS2 x x x x x x
PTEN x x x x x x
RAD51C x x x x x x
SMAD4 x x x x x x
STK11 x x x x x x
TP53 x x x x x x
Gene Myriad MyRisk
Ambry Cancer Next
Invitae GeneDx Uwash BROCA
Fulgent*
BARD1 x x x x x RAD51D x x x x x MRE11A x x x RAD50 x x x
NF1 x x VHL Renal/PGL x x x x
MEN1 x x x RET PGL x x x
PTCH1 x x PALLD x XRCC2 x x x CHEK1 x x AXIN2 x x FANCC x x
ATR x x BAP1 x x
GALNT12 x x HOXB13 x x POLD1 x x PRSS1 x x
RAD51A x x SDHB Renal/PGL x x SDHC Renal/PGL x x SDHD Renal/PGL x x AKT1 x
CTNNA1 x FAM175A x
GEN1 x GREM1 x PIK3CA x POLE x
PPM1D x TP53BP1 x
*Rest of genes on Fulgent: BLM, BUB1B, CTNNB1, CYLD, DDB2, DICER1, EGFR, EGLN1, ERCC2, ERCC3, ERCC4, ERCC5, EXO1, EXT1, EXT2, FANCA, FANCB, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GPC3, HRAS, KIF1B, KIT, MC1R, MPL, MSH3, NF2, PDGFRA, PICALM, PMS1, PRKAR1A, PRKDC, PTPN11, RB1, RBBP8, RBM15, RECQL4, ROBO2, SBDS, SLX4, SMARCB1, SUFU, TERT, TSHR, TYR, WRN ,WT1, XPA, XPC, XRCC3
Gene Ambry
Renal or PGL
Fulgent*
FH x x FLCN x x MAX x x MET x x MITF x x SDHA x x
SDHAF2 x x TMEM127 x x
TSC1 x x TSC2 x x
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Assess patient
Test for most likely
gene(s)
Disclose result and reassess
Test for most likely
gene(s)
Revolution of genetic testing
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Assess patient
Send multigene
panel
Disclose result and reassess
New approach?
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INTERVENTIONS
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What is actionable?
• Something that potentially could be acted upon
• It does not mean that it is acted upon
• It does not mean that such action benefits a patient
• Actionability = clinical utility
• Critically important that all this be studied
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• More cost effective (for the testing) to do multigene
rather than serial testing
• Patients (and providers!) can get testing fatigue
• The same cancer can be seen with different genes
mutations
– Ovarian cancer in both BRCA1/2 and Lynch
– Uterine cancer in Lynch and Cowden
– Breast in Li-Fraumeni and BRCA1/2
• Isn’t more better?
Why do this?
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• High penetrance and moderate penetrance genes
are on one panel
– Implications for counseling
– Keeping track of it all
– Don’t we recognize clinical syndromes?
• (And if we don’t – what does it mean?)
• Variants of uncertain significance
• Clinical utility: order tests you will act on
– At least actionability
Domchek et al, JCO 2013
Potential Issues
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• Screening and prevention
– Need to understand risks and benefits
– What age to start screening?
– What screening?
– What age to have preventative surgery?
– What to do with “unexpected” high penetrance mutation
• When we find things we don’t expect, what should we do?
Clinical utility
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• Therapeutics
– Prognosis: may impact administration of adjuvant
therapy
– Drug development/selection
– Will tumors with mutations in these other genes be
sensitive to specific types of drugs?
Clinical utility
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Case 1- Medical Oncology
Relationship Diagnosis Age Cancer Site TNBC Histology
Mother 80 Colon
Patient 59 Ovarian
Sister 54 Breast, Invasive No
Uncle Maternal #1
Lung
Uncle Maternal #2
Lung
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PALB2 Cancer Risk
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PALB2 Management
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PALB2 Management
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©2019 Myriad Genetics, Inc. All rights reserved.
Case 2 Medical Oncology
Relationship Diagnosis Age Cancer Site TNBC Histology
Great Aunt Maternal
65 Invasive Breast Cancer
No
Mother 70 Leukemia
Mother 80 Non-Hodgkins Lymphoma
Patient 60 Invasive Breast Ca
Yes
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©2019 Myriad Genetics, Inc. All rights reserved.
BRCA1 Cancer Risk
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©2019 Myriad Genetics, Inc. All rights reserved.
BRCA1 Management
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©2019 Myriad Genetics, Inc. All rights reserved.
BRCA1 Management
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©2019 Myriad Genetics, Inc. All rights reserved.
BRCA1 Management
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• Genetic testing can be very useful to patients and their family members – Both the prevent and to treat cancer
• Genetic testing is continuously evolving
• BRCA1 and BRCA2 mutations are the most commonly found and we have reasonable data on how to manage
• New genetics tests are often less clear in terms of how to change patients care – and improve patient outcome
• Variants of unknown significance should NOT be managed as mutations
• In the face of rising prophylactic mastectomies, we need to emphasize to patients how mutations in these genes are different from those in BRCA1/2
Conclusions
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Robotics
Remote Surgery
Live Monitoring
via Cell Phones
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Wi-Fi Smart Scale
Otoscope Blood Pressure Monitor
Bluetooth Stethoscope
Blood Glucose Meter
Digital Thermometer
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Increased Access
to health care
for all
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At Home, at the Office, on the Go, at a Kiosk