Precision Genomics and Genetic Counseling with Cancer Patients - - PDF document

10/15/2018 1

Precision Genomics and Genetic Counseling with Cancer Patients

GALEN JOSEPH, PHD 7TH ASIAN HEALTH SYMPOSIUM, UCSF OCTOBER 11, 2018

No Disclosures Objective

To identify the role of communication in precision genomics and genetic counseling to reduce hereditary cancer risks.

Overview

I. Background on Hereditary Cancer, Health Disparities, and Health Literacy

• II. Study: Communication in Genetic Counseling
• III. Cancer Genetic Counseling with Low Income Chinese Immigrants
• IV. Other interventions to improve communication in genetic counseling/genomics

communication

10/15/2018 2 Background

 Most common hereditary cancer syndromes are Hereditary Breast and Ovarian Cancer (HBOC) and Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome  Limited data on prevalence of HBOC and Lynch syndrome in Asian ancestry populations, but rates appear to be similar to European ancestry populations

 Typically 5‐10% of cancers are hereditary  Another 15% are “familial” or multifactorial  Most are due to other unknown factors/chance.

 Hereditary cancer services increasingly accessible due to lower costs of genetic testing; coverage under ACA; and broader criteria for testing

 Genetics/Genomics increasingly part of mainstream medicine—reaching beyond specialty genetics and oncology clinics  Population genomic screening, e.g. screening healthy populations for hereditary cancer  Direct to consumer genetic testing

However, access alone is not enough

Potential to exacerbate existing disparities as genetics and genomics advances if all populations can’t gain the benefits.

Effective Communication = both participants share a common understanding

Gaps in effective communication contribute to disparate health outcomes

Challenges to Effective Communication

Health literacy is low in US

• Only 12 percent of U.S. adults have the health literacy skills needed to manage the demands of our complex

health care system

• 1/3 have basic or below basic literacy (reading and understanding a prescription label is a challenge)
• Low health literacy is associated with poorer health outcomes and poorer use of health care services
• Health literacy:
• the capacity to obtain, process, understand, and use information for health‐related decision‐making;
• includes oral, print, numeracy and cultural/conceptual domains

Health Numeracy is low:

• Approximately half of the adults in the United States are unable to accurately calculate a tip
• 20% of college‐educated adults do not know what is a higher risk—1%, 5%, or 10%

Physicians commonly overestimate patients’ literacy levels

10/15/2018 3 Challenges to Effective Communication

Limited English proficiency (LEP)

• ~20% speak a language other than English at home
• Combination of LEP and low literacy may have synergistic effects

Differences between culture of biomedicine and the populations it serves All contribute to challenges for health communication in general

• Given complexity, especially true for genetics and genomics

Communication in Genetic Counseling

Translating Cancer Genetics to the Safety Net Setting (2012‐2017) Research Questions: How do these communication challenges play out in cancer genetic counseling in safety net settings? What can we do to improve the communication?

Methods

• Observed/audio recorded GC Sessions (n=170)
• English, Spanish and Chinese
• 2 public hospitals; 30 months
• Qualitative interviews with patients offered GT (n= 49)
• Stimulated recall
• Qualitative interviews with Observed Genetic Counselors (n=10)
• Medical Interpreters at one site
• Interviews (n=11)
• Survey (n=18)

Information Mismatch

INFORMATION COUNSELORS PROVIDE:

• What genetics, genes and mutations

are

• How they make a risk assessment
• What a genetic test is; how it’s

performed; what it examines

• Possible test results
• Limitations of test
• Test is optional
• Screening and surgical options if you

test positive

INFORMATION PATIENTS WANT TO KNOW:

• Is my cancer hereditary?
• Am I going to get cancer?
• What caused my cancer?
• Are my family members going to get

cancer?

• If I am likely to get cancer (again),

what can I do, if anything?

• Is there anything I can do to protect

my children/family members?

Joseph, G., et al (2017). Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients Journal

• f Genetic Counseling, 26(5), 1105‐1105.

10/15/2018 4 Results: Qualitative Themes

• 1. Too Much Information
• 2. Complex Terminology and Conceptually Difficult Presentation of Information
• 3. Information Perceived as not Relevant by the Patient
• 4. Counselors Unintentionally Inhibited Patient Engagement and Question‐

Asking

• 5. Vague Discussions of Screening and Prevention Recommendations

Joseph, G., et al (2017). Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients Journal

• f Genetic Counseling, 26(5), 1105‐1105.

Observed 40 GC appointments (n=25) Observed 40 GC appointments (n=25) Eligible for interview because

• ffered GT

(n=19) Eligible for interview because

• ffered GT

(n=19) Agreed to interview (n=13) Agreed to interview (n=13) Interviewed after Pre‐test appointment

• nly

(n=5) Interviewed after Pre‐test appointment

• nly

(n=5) Interviewed after Results appointment

• nly

(n=4) Interviewed after Results appointment

• nly

(n=4) Interviewed after Pre‐test and Results Appointments (n=4) Interviewed after Pre‐test and Results Appointments (n=4)

• 1. Strong beliefs in environmental causes of

cancer and skepticism about genetic causes

I think the reason I had breast cancer was not because of my

• genes. I have been working hard for many years, and the

fatigue is catching up to me. Also, air pollution and genetically modified foods may contribute to breast cancer. […]

10/15/2018 5

I think if my father wasn’t forced to do farm work during the Great Cultural Revolution and he stayed in Guangzhou working a stable job and had the family as a whole together, he might not have gotten cancer. The main reason he had cancer was because he wasn’t happy and was treated unfairly… If a person continues to be wrongfully accused of doing something and remains depressed all the time, even a healthy person can develop an illness. I think that my father had cancer because he was under constant accusations. My brother, however, it was because he was a businessman so he had to eat

• ut and drink a lot. He also didn’t get much rest, and the stress from work

caused his cancer. He wouldn’t have gotten cancer if he could have retired

• earlier. I don’t think my family carries the cancer gene.
• 2. Willingness to undergo genetic testing despite

skepticism of hereditary cause of cancer

 No financial barrier

 Test covered by insurance (MediCal or Medicare), or foundation or laboratory support  No cost to patient

 Expected test to be negative

 Potential to alleviate concerns about family

• 3. Misunderstanding of key information needed

to make informed decisions about testing and screening/prevention options

 Genetic test as checking for cancer rather than the risk of cancer  BRCA1 and 2 like diabetes type 1 and 2  Risk of recurrence vs. risk of a new primary cancer in a different organ: Patient: Right. She recommended that I remove my uterus, but I didn’t want to. Interviewer: Why do you think she recommended you to remove it? Patient: Well if I remove it, then [the cancer] wouldn’t go there. I didn’t think it was necessary, since it can go anywhere. If it doesn’t go to the uterus, it will go to the

• varies and my ovaries are in the same area. I don’t think it’s necessary.

[9‐CHI, results]

• 4. Variable interpreter quality limits

understanding and reinforces misconceptions

Remote interpretation  issues of trust and technical difficulties It would be best if the interpreter could be present in the room instead of over the phone so that I could understand more clearly and ask more questions. I don’t feel as comfortable asking questions over the phone. If the interpreter was actually in the room, it would be a lot better. […] I’m afraid to ask questions over the phone. [10‐CHI]. Interpreters’ limited understanding of genetics GC: But sometimes there can be what’s called a mutation or a change in the gene so it doesn’t work properly. Interpreter: Usually regarding our immune system, after a long time and we get old and things change then these genes…cannot protect. [4‐CHI, pre‐test]

10/15/2018 6

• 5. Selective family communication about

cancer and GC/GT

Key reasons for selective disclosure of cancer dx and genetic test results: 1. Sharing their cancer status with any relatives would lead to disclosure to their elderly parents whom they wanted to protect 2. Elderly parents’ knowledge of the cancer diagnosis or genetic test results would cause them to worry without any benefit, especially if their parents were overseas 3. Relatives’ belief that cancer is contagious and thus would stigmatize the patient or otherwise negatively impact the relationship

Interventions

• 1. Communication Workshop for Genetic

Counselors

• 2. CSER CHARM study RCT comparing Modified

Literacy focused genetic counseling to Tradition (standard of care) genetic counseling

• 3. Adaptation of Communication Workshop for

Clinical Trials discussions CRCs and Clinicians

• 4. Cancer Genetics for Healthcare Interpreters
• 5. Adaptation of Interpreter Training for

Interpreters conducting Exome RoR appointments for CSER study

• 1. Communication

Workshop for Genetic Counselors

Intervention Pilot Aims 1) Developed curriculum & held 4.5 hr workshop for GCs on effective communication with limited health literacy patients (n=9) 2) Conducted interviews with participating GCs 2 months after workshop (n=9) 3) Observed & audio recorded counseling sessions with 2 GC workshop participants (n=24) 4) Qualitative interviews with patients using the audio recordings to stimulate patients’ recall and probe specific aspects of the

• communication. (n=9; 3 each in English,

Spanish, Cantonese)

Joseph G., Lee, R. Pasick R, Schillinger D, Guerra C, Rubin S. Meeting the Needs of Low Health Literacy Patients in the Era of Precision Medicine: A Pilot Intervention to Improve Patient‐Provider Communication in Genetic Counseling. Under Review. European Journal of Human Genetics

Communication Workshop for Genetic Counselors

Evidence‐Based Strategies for Effective Communication with Limited‐Literacy Patients and across Language

• Use Plain Language—rather than technical terms/jargon
• Avoid TMI—limit education to key messages (What the patient needs to

know)

• Use “Teach back” to verify patient understanding
• Use proven risk communication strategies e.g. frequencies instead of

percentages (1 out of 10 vs. 10%)

• Practice with Exercises and Role Plays

10/15/2018 7 Principles

• The clinician, not the patient, is responsible for effective communication.
• The ‘universal precaution principle’: all patients may benefit from

simplifying communication and assessing comprehension, to minimize the risk of miscommunication

• Patient comprehension can and should be verified throughout the

appointment.

• Adapting appropriately for low literacy requires commitment, sensitivity,

flexibility, and practice.

Precision Population Health

 The Clinical Sequencing Evidence‐Generating Research (CSER) consortium  National multi‐site research program funded by

 National Human Genome Research Institute (NHGRI),  National Cancer Institute (NCI)  National Institute on Minority Health and Health Disparities (NIMHD).

 Prioritizes engagement of traditionally underrepresented populations in genomics research

 6 clinical sites studying the effectiveness of integrating genome sequencing into the clinical care of diverse and medically underserved individuals.  measuring sequencing’s clinical utility through patient and familial responses to genomic testing and evaluating patient‐provider‐laboratory interactions that influence the use of sequencing.

• 2. Cancer Health Assessments Reaching Many (CHARM)

NHGRI/U01 MPI: Goddard/Wilfond

Key Difference:

Communication Approach

TRADITIONAL: USUAL CARE Conceptually and linguistically complex

• Analogies/hypotheticals
• Jargon/technical language
• Passive voice to convey uncertainty indirectly

Emphasis on Education

• More detailed genetic information
• More unidirectional from counselor to

participant

• MODIFIED: LITERACY FOCUS

Conceptually and linguistically simplified

• Direct/concrete
• Lay/Plain language
• Active voice to clarify/minimize uncertainty

Emphasis on Communication and psychosocial counseling

• More dialogue/participant engagement
• Focus on relationship building

(rapport/empathy)

10/15/2018 8 Adapt Literacy Focused Communication Training for Clinical Trials Discussions

Adapt for UCSF‐Helen Diller Family Comprehensive Cancer Center Clinical Research Coordinators (CRCs) and Clinicians Workshops Coming this Winter! Funded by MZHF

Cancer Genetics for Healthcare Interpreters

http://www.chiaonline.org/Interpreting‐for‐Cancer‐Genetics

Adapt Training for Interpreters for Exome disclosure appointments

Aim 1. Adapt a web‐based training curriculum for professional healthcare interpreters. Aim 2. Train Spanish interpreters at Language Line Solutions (n=25) Aim 3. Evaluate interpretation quality of both trained and untrained interpreters in RoR sessions

• Audio recordings/transcripts
• Participant surveys

Aim 4. Conduct qualitative interviews with trained and un‐trained interpreters (n=25) who have provided interpretation for disclosure sessions.

Genomic literacy is necessary to realize the promise of Genomic Medicine

Genomic health literacy: the capacity to obtain, process, understand, and use genomic information for health‐related decision‐making; it includes oral, print, numeracy and cultural/conceptual domains Diversity Imperative for Genomics Research

• All of Us Research Program (Obama’s Precision Medicine Initiative
• Other NIH initiatives like the CSER2: Clinical Sequencing Evidence‐

Generating Research Consortium

Hurle, B. et al. (2013). What does it mean to be genomically literate? National Human Genome Research Institute meeting report.

10/15/2018 9 Thank you!

Galen Joseph, PhD Galen.Joseph@ucsf.edu