[Instructor] All right, so here I'm going
to talk through some more specific slides on GINA
for health professionals,
and this was developed
through the Genetics & Public Policy Center
and the NCHPEG and Genetic Alliance.
I think these are some great examples
that can hopefully be helpful
and understanding practical guide to GINA.
So consider the following.
A woman who has a family history
of breast cancer is interested in genetic testing.
She asks her healthcare provider
whether a positive test result can be used
to deny her health insurance, life insurance, or employment.
These practices are examples of genetic,
potential genetic discrimination.
That's what she's concerned about,
and we do have law in place
to protect some of what she's asking.
So this was signed into law on May 21st, 2008,
by President George W. Bush.
The law is in effect since November of 2009.
So again, when we compare GINA and HIPAA,
the GINA is protects against the use
of genetic information to discriminate in health insurance
and employment while HIPAA protects the privacy
of health related information.
So what does GINA do?
Health insurers that prohibits
using a person's genetic information in setting eligibility
or premium or contribution amounts,
prohibits health insurers from requesting
or requiring that a person undergo a genetic test,
and life insurers at this time,
GINA does not affect life, disability,
or long-term care insurance.
GINA does not affect the practice of medicine.
It affects health insurers and employers.
Of course, though where health insurers are affected,
that also can of course affect healthcare,
but not directly through GINA.
For employers,
it prohibits the use of a person's genetic information
in decisions such as hiring, firing,
job assignments and promotions,
and prohibits requesting, requiring,
or purchasing genetic information
about an individual employee or family member.
So in this presentation,
we're going to talk about four case studies.
GINA and family history,
GINA and genetic testing,
GINA, manifest disease, and predisposition,
and GINA and prenatal issues.
So starting first with the first case,
GINA and family history,
a woman and her six-year-old son, Sam,
present for routine care.
Sam is known to have neurofibromatosis type 1, or NF1.
There's Sam there, and his parents.
Provider takes a three generation pedigree
shown at the right and here we go.
Here's the rest of it.
So no one else has been clinically diagnosed
with neurofibromatosis.
As you probably recall, what is neurofibromatosis?
It's a autosomal dominant condition.
There's a 50% chance to pass on changed NF1 gene
to offspring because it's autosomal dominant.
Multiple benign tumors are the result
and can sometimes affect the brain and spinal cord.
Who in the family is at risk for neurofibromatosis type 1?
Well, if we look at it,
certainly since this is a dominant condition,
autosomal dominant condition,
it could be either of the parents
may also have the condition,
and if that's the case, then whichever parent,
if one of these parents does have it,
if it wasn't seen, for example,
a de novo mutation that resulted in this particular,
in this particular child,
if it was actually something
that was present in any part of the family,
there would be concerns about that whole side of the family.
So if it came back that, say for example,
the parents were tested,
it came back that the mother had a neurofibromatosis
but it wasn't say, fully penetrant for her,
then the other family members on her side
of the family would also be at risk
for neurofibromatosis type 1.
So really everybody is.
Who in the family is protected from genetic discrimination
based on family history of NF1?
Well, so here, let's go back to thinking about
who is protected by GINA.
That would be those
who do not have a manifest condition already.
So not something that's already been diagnosed.
Sam already has neurofibromatosis,
has been diagnosed with the neurofibromatosis,
so he would not be covered under,
specifically under GINA for protection
from health insurers using that information.
However, everyone else in the family
who has not been diagnosed with neurofibromatosis type 1
would be protected by GINA.
So that would be everybody there, but not Sam.
For Sam, does GINA prohibit an insurer
from using his NF1 diagnosis for underwriting purposes?
It does not because he's already symptomatic
and had been diagnosed clinically with it.
Now let's consider a family history for Type 2 diabetes.
So here we're looking at a condition
that Sam does not actually have,
but say his mother had Type 2 diabetes,
her mother had it, and her sister had it as well.
So you've collected this information and family history.
So let's consider the question.
Can Sam, can an insurer use the family history
for Type 2 diabetes for underwriting purposes for Sam?
Well, the answer here is no, they cannot.
Why is that?
Because Sam does not have Type 2 diabetes right now
so he does not have it manifest as a condition.
And even if a condition is known to be genetic,
if a patient does not have symptoms of it,
has not been clinically diagnosed with it,
they are protected by GINA for any kind
of genetic information that might be gathered for them.
Under GINA, is the insurer allowed to request Sam's medical
and/or family history information for the purpose
of determining eligibility for medical services?
The answer here is yes, they can.
That is no different from any other disease.
All right, under Gina,
the definition of genetic information
includes the manifestation of a disease in a family member,
which includes first, second, third,
or fourth degree relatives.
This family history information is protected under GINA.
The insurer may not use family history information
for underwriting purposes.
GINA does not prohibit an insurer from reviewing medical
and family history to determine eligibility
for further medical surveillance testing
or preventive care or treatment.
GINA does not, or rather GINA does prohibit the insurer
from using that information
to make decisions about underwriting.
So the insurer may review that information
but they may not use it for underwriting decisions.
This law should not keep you
from taking a comprehensive family history
because there is legal protection.
In our second case here, GINA and genetic testing.
A 25-year-old male has direct-to-consumer genetic testing.
The results show in apoE4 genotype,
increasing risk of cardiovascular disease
and Alzheimer's disease.
Can an insurer use this information about his future risk
for cardiovascular disease for underwriting purposes?
The answer here is no,
because he does not as of right now have any symptoms
of cardiovascular disease,
nor does he have any symptoms of Alzheimer's disease.
So it cannot be used for underwriting purposes at all.
Can his insurer request genetic testing result
to determine medical necessity
for lipid profile screening and surveillance?
If this was what his physician decided was an appropriate
move and this was something that the patient also agreed
to as a result of the direct-to-consumer
genetic test result,
can his insurer request the testing result
to determine the medical necessity for this increased
or for these tests?
And the answer is yes, they can.
They can, they just cannot use the information from that,
from that genetic test to affect his,
the underwriting of his insurance,
but they can request the information to know
that there is a medical necessity
for these other expensive tests.
The patient's genetic profile obtained
through the direct-to-consumer tests is protected
and cannot be used to deny him access to medical insurance.
The patient-related discussions and medical history obtained
from his medical provider are also protected.
GINA does not require health insurers to cover the cost
of genetic testing or follow-up care.
So keep that in mind.
It it's not enforcement of requiring insurers
to pay for genetic tests.
The insurer can request the test results
to determine medical necessity for lipid profile screening
and surveillance and Alzheimer's surveillance later in life.
The law does not compel you to order genetic tests
that you would otherwise,
rather that you would not have otherwise ordered.
All right, case number three.
GINA, manifest disease, and predisposition.
Predisposition.
So Rachel, a 39-year-old woman,
presents with a mass in the right breast.
Biopsy is positive for invasive breast cancer.
So here's Rachel on the right,
referred to genetic counseling
and testing because of young age
and Ashkenazi Jewish background.
Positive for BRCA1 mutation
and she opts for bilateral mastectomy.
Is Rachel protected under GINA
because she has a genetic cause for her breast cancer?
Well, the answer is no because she has breast cancer.
So she has manifest disease.
Whether it is genetic basis or not, it doesn't matter.
It is not covered by GINA because it is a manifest disease.
BRCA1 mutations are associated with increased risk
for breast and ovarian cancer.
Does GINA prohibit the insurance company
from denying Rachel coverage for surveillance
and risk reduction procedures for ovarian cancer?
The answer here is yes, it does protect.
It does protect that.
So GINA would prohibit the insurance company
from denying her coverage for ovarian cancer surveillance
because she doesn't have ovarian cancer,
she has breast cancer.
So they can only use the disease that is currently manifest.
All right,
so if we now look at her extended family tree here,
she has a sister, Stephanie, who's 32 years old.
Stephanie may be at risk for BRCA1 mutation
and early cancer as well.
Stephanie desires testing.
If Stephanie shares Rachel's BRCA1 mutation status
with her doctor,
can the insurance company use that information?
Well, the answer is no.
They cannot use that information to deny her coverage
or to affect her underwriting.
If Stephanie gets genetic testing and is a BRCA1 carrier,
will her insurance company be allowed
to deny her treatment if she develops breast cancer?
Of course not. No.
That is not a manifest disease.
She does not currently have breast cancer
so that information cannot be used,
and that is really the very heart of GINA,
is to protect patients from the fear that if they get,
if they are trying to be proactive in their health
and determine their risks,
that they cannot be penalized
from an insurance company for that.
GINA doesn't prohibit insurers
from using information about existing condition,
even if that condition has a genetic basis.
The increased risk of other cancers
based on patient's BRCA1 mutation
is genetic information and is protected.
GINA protects Stephanie against misuse
of information about a family history
of hereditary breast cancer.
Stephanie's insurer can request family history information
to determine the necessity of the breast cancer
of the BRCA1 testing,
but cannot use that information to,
cannot keep her from obtaining
and continuing her medical insurance regardless
of her BRCA status.
The law should ease concerns about sharing information
within families and with providers.
That's the goal of the law.
GINA and prenatal issues.
So a 33-year-old white female
accepts cystic fibrosis screening at 13 weeks of gestation.
The screening shows she carries the delta five,
the delta F508 mutation
and the patient's partner is tested.
He carries different cystic fibrosis mutation.
The couple offered genetic counseling
and amniocentesis for prenatal diagnosis.
Would a prenatal diagnosis of cystic fibrosis
constitute a preexisting condition
for this child's health insurance after birth?
The answer here is no
because the child does not have man,
the fetus before the child was born
and also the newborn does not have manifestation
of cystic fibrosis at that stage
and so it would cover them,
cover the child until the child does
develop clinical manifestation of cystic fibrosis.
Under GINA, health insurance companies cannot
consider genetic information a pre-existing condition.
All the following genetic information is protected.
Family history, prenatal DNA results of the fetus,
biochemical newborn screening results of the infant,
and cystic fibrosis DNA results of the infant.
If the child is born with cystic fibrosis,
coverage decisions related to treatment may be subject
to decisions by the insurance carrier
once the diseases manifest.
All right,
so you may be wondering about the Healthcare Reform Act
and GINA.
So the new, the new health legislation
which was new when this,
when these slides were made
but has really just gone into effect more recently,
that is some aspects do not take effect for several years,
well, we're already here now.
So that's starting to take effect
as I'm sure you're all very aware.
Provides health insurance coverage to the uninsured
and it seeks to improve coverage for millions of Americans
and will provide access to care
to some individuals not helped by GINA,
such as those with manifest genetic conditions.
So they should be made aware of that
when they're considering genetic testing
and just the implications of what they are
or are not protected from through GINA.
So general summary of what GINA does.
It affects health insurers and employers.
The law's protections might ease concerns some patients have
when considering genetic testing.
Under GINA group and health insure,
health insurers cannot use a person's genetic information
to set eligibility requirements or establish premium
or contribution amounts,
request or require that a person undergo a genetic test.
And also under GINA,
employers cannot use a person's genetic information in
decisions about hiring, firing,
job assignments or promotions,
request or require or purchase genetic information
about an employee or family member.
So just a general summary.
Types of protected genetic information.
Family medical history, carrier testing,
prenatal genetic testing,
susceptibility testing,
analysis of tumors or other assessments of genes,
mutations, or chromosomal changes.
Again, unless they come along with a manifest condition,
in which case it's not covered by GINA simply
because it is already manifest.
What it does not do.
Protect information about disease simply
because it's genetic when the disease
is already diagnosed and manifest.
Apply to life, disability, or long-term care insurers
as of the date listed on this presentation,
which is also still the case.
Protect information about current health status.
Provide employment to protections in organizations
with fewer than 15 employees.
Talked about this in the previous lecture.
Protect certain groups including military
and federal employees,
and those are actually protected by other,
other anti-discrimination laws as well.
So exemptions to GINA.
Information about sex, age,
or common blood tests such as CBC
or cholesterol testing is not covered,
not considered a genetic test.
Life, disability, long-term care insurers.
Again, we've talked about this.
Employers with fewer than 15 employees,
members of the US military, they're covered separately.
Veterans obtaining healthcare through the VA,
individuals using Indian Health Service,
or federal employees
enrolled in Federal Employees Health Benefits program.
They all have,
some of those have their own separate coverage
that would supersede GINA and those are,
but those are important considerations to keep in mind.
So here's a list of some resources
that you may find helpful.
The ginahelp.org is a very helpful website to go to
and also potentially to send patients
or family members to who may have more questions about GINA.
All right, well with that,
I will say goodbye and I look forward to talking
with you more on the discussion board.
Take care.