A Pilot Study of Patient
Satisfaction with Genetic
Counseling via Telemedicine
Elizabeth Reilly, M.S.
Genetic Counselor
UK Markey Cancer Center
Learning Objectives

Describe the role of a genetic counselor in the
oncology setting.

Identify the necessary components of genetic
counseling needed to comply with the Commission
on Cancer accreditation standards.

Recognize the importance of a genetic counselor
in patient understanding of genetic concepts and
implication of test results.
What is genetic counseling?

“Genetic counseling is the
process of helping people
understand and adapt to the
medical, psychological, and
familial implications of genetic
contributions to disease.”
~NSGC 2006

Two main foci:
◦
Medical

◦
Helping individuals/families to
understand genetic risk
Psychosocial

Helping individuals/families adjust to
diagnoses
What happens in a cancer genetic
counseling session?
•
Record the patient’s medical and family history
•
Discuss cancer syndromes that fit the family history
(including cancer risks)
•
Identify the best member of the family to pursue genetic
testing
•
Discuss pretest probability for specific syndromes, the
benefits/limitations of testing and testing logistics
•
Discuss cancer screening and prevention options
What happens in a cancer genetic
counseling session?
•
Address the emotional issues of the patient
•
Outline the next appropriate steps and remain
available for future contact
•
Identify relatives for whom genetic counseling/testing
is also important
•
Mail a letter to the patient summarizing the
information discussed during their appointment
•
Forward a copy of the dictation to the referring
physician
Commission on Cancer Standard 2.3- Risk
Assessment and Genetic Counseling

“Cancer risk assessment, genetic counseling, and testing
services are provided to patients either on-site or by
referral, by a qualified genetics professional”

“Cancer risk assessment and genetic counseling are
performed by a cancer genetics professional who has
extensive experience and educational background in
genetics, cancer genetics, counseling and hereditary
cancer syndromes to provide accurate risk assessment
and empathetic genetic counseling to patients with
cancer and their families.”
Genetics Professionals

ABGC or ABMG board-certified/board-eligible or (in some
states) a licensed genetic counselor

ACMG physician board certified in medical genetics

Genetics Clinical Nurse (GCN) or an Advanced Practice Nurse
in Genetics (APNG), credentialed through the Genetics Nursing
Credentialing Commission

Advanced practice oncology nurse who is prepared at the
graduate level with specialized education in cancer genetics and
hereditary cancer predisposition syndromes (certification by the
Oncology Nursing Certification Corporation is preferred)

Board certified physician with experience in cancer genetics
(defined as providing cancer risk assessment on a regular basis)
Commission on Cancer Standard 2.3- Risk
Assessment and Genetic Counseling

Purpose:




Educate patients about their chance of developing cancers
Help them obtain personal meaning from cancer genetic
information
Empower them to make educated, informed decisions about
genetic testing, screening and cancer prevention
“Programs not having immediate access to formal genetic
counseling services should identify resources for referral”
Commission on Cancer Standard 2.3- Risk
Assessment and Genetic Counseling

Pre-test Counseling

Collect information needed to assess a patient’s personal and family
medical history


Evaluating the patient’s risk




Risk of developing cancer
Risk that patient carries a germline mutation
Performing a psychosocial assessment
Educating the patient about the suspected hereditary syndrome, if
appropriate




3-4 generation pedigree
Basic genetic concepts (DNA, genes, chromosomes)
Associated cancer risk
Advanced concepts (penetrance, genetic heterogeneity
Obtaining informed consent for genetic testing
Commission on Cancer Standard 2.3- Risk
Assessment and Genetic Counseling

Post-test Counseling






Disclosure of results
Significance and impact results
Medical management options
Informing other relatives,
Future contact
Available resources
Why is Genetic Counseling Important?
“A genetic counselor should
be involved early in
counseling patients who
potentially meet criteria for
an inherited syndrome.
Genetic counseling is advised
when genetic testing is
offered.” -NCCN

In the context of genetic testing,
genetic counseling is
recommended by the National
Comprehensive Cancer Network,
American Medical Society,
American Society of Clinical
Oncology etc.

Listed as a part of medical necessity criteria for
coverage of genetic testing by Anthem, Humana, Cigna,
United, Medicare/Medicaid etc.
Why is Genetic Counseling Important?

Determines the most appropriate genetic test(s) and the
most informative approach to genetic testing for patients and
their families.

Helps patients and their physicians understand and apply
genetic test results to medical management decisions.

Increases patient satisfaction with genetic testing process.

Helps patients feel more comfortable with their
understanding of complex genetic information.

Helps patients cope with test implications

Connects patients to supportive, informative and researchrelated resources.
County without KY TeleHealth
network approved member
Edgewood
City with Genetic
Counselors
Louisville
Lexington
Genetic Counseling via Telemedicine- Pilot

Partnering with St. Claire Medical Center in Morehead

Patients are identified by clinic staff; referral form is filled out
and patient is scheduled with me on Wednesday afternoons

Patient is asked to fill out a family history questionnaire to
bring to appointment

Patient has appointment with me and blood is drawn for
testing if appropriate

Patient completes satisfaction questionnaire

I handle insurance issues with the lab

I call patient with results; if positive we meet again via
telemedicine
Genetic Counseling via Telemedicine- Pilot


First patient was seen on March 27th
Counseled 2 patients so far



One with positive results has had post-test counseling also
Coordinated BRCA1/2 testing for one patient (insurance
covered)
Working with the other patient to get qualified for
Myriad’s financial assistance program (testing for free)
Genetic Counseling via Telemedicine- Pilot

Patient questionnaire results






Neither had received genetic counseling in the past
Neither had received healthcare by telemedicine in the past
Both stated telemedicine was comparable to an in-person visit
Both said they learned useful information and would
recommend telegenetic counseling to others
One patient would have traveled to Lexington for an in-person
appointment if telegenetic counseling was not available; one
patient would not have traveled
St. Claire staff feedback


Pleased with referral process and communication
Pleased with clinic flow
Genetic Counseling via Telemedicine

Telegenetic counseling will be offered exclusively to UK
Markey Cancer Center Affiliate Network Hospitals

Compliance with CoC accreditation

Provide more comprehensive care for your patients

Help patients form the best treatment/screening plan

Bring revenue to your facility
◦
By identifying mutation carriers and having them come to your
facility for close screening and/or prophylactic surgery
Management for BRCA1/2 Mutation
Positive Women

Surveillance

Breasts:
◦
◦
◦
monthly breast self-examinations beginning at age 18,
annual mammography and breast MRI beginning at age 25 and
clinical breast examinations 2 times per year beginning at age 25.
Ovaries:

◦
pelvic examination, transvaginal ultrasound with color Doppler,
and serum CA-125 every 6 months beginning at age 35 or 5-10
years younger than the earliest diagnosis of ovarian cancer in the
family.
Management for BRCA1/2 Mutation
Positive Women

Risk Reduction

Breasts:
◦
◦

Chemoprevention (i.e. Tamoxifen) reduces cancer risk in high risk
women by about 50% (BRCA2 only)
Prophylactic bilateral mastectomies reduces cancer risk by about
90%
Ovaries:
◦
◦
In premenopausal women, use of birth control pills for at least 5
years can reduce the chance to have ovarian cancer by up to
60%.
Prophylactic bilateral salpingo-oophorectomy (BSO) reduces the
chance to have ovarian cancer by 85-90%. BSO is recommended
around age 35-40 or after childbearing is complete.
Genetic Information Non-Discrimination Act
(GINA)

Federal law passed in 2008; effective 2009

Prohibits discrimination by health insurance companies and
employers based on “genetic information.”


Health Insurance




Personal genetic test results and up to fourth-degree relatives’
results
Group and individual insurers may not use your genetic information
to set eligibility, premium or contribution amounts.
Genetic information cannot be considered a pre-existing condition
Health insurers may not request/require a person take a genetic test
Employers


May not used genetic information to make decisions involving hiring,
firing, job assignments, and promotions
May not request, require, or purchase genetic information about an
employee or their family members
Genetic Information Non-Discrimination Act
(GINA)

GINA does not cover:




Employers with less than 15 employees
Manifest disease
Life, disability or long-term care insurance
Members of the US Military
??? QUESTIONS ???