Imagine a world in which your medical care is tailored just for you. Using
information about your environment, history, and genetics your doctors could
customize your healthcare. For example, if your genetic information showed an
increased risk for certain cancers, they could recommend a specific screening
plan. If your genetic information showed you wouldn't respond well to a
medication, they could prescribe you a different one. Doctors could better use
genetic and other information about their patients to give the right people
the right treatments at the right time. Every day we get closer to this goal but
we still have more to learn. Why? For starters, analyzing a person's genetic
information is not as simple as you might think. Each person's genetic code,
while overall very similar to everyone else's, has thousands of changes from
person to person. These are part of what makes us unique. Some genetic changes may
have no noticeable effect or may contribute to minor differences between
us like eye color or blood type. Others may have significant impact on our
health or development such as the changes that cause conditions like
Cystic Fibrosis or Sickle Cell Anemia. Genetic testing laboratories try to
categorize each change they find into groups based on what information is
available about the change. If the lab finds compelling evidence that the
change has no significant effect on health, they categorize it as benign.
Likewise, if they are able to find significant evidence that the change
causes a particular disease, they categorize it as pathogenic. However, this
distinction is not always clear. For many genetic changes there is simply not
enough available information to put it into either category. When this happens
the change is categorized as uncertain. The more information available about
genetic changes, the more laboratories can move changes from uncertain into the
pathogenic or benign categories, making it easier for doctors to use that
information to guide their patients' care. One of the best ways to help classify
these changes and to gather more information is for laboratories,
patients, and doctors to share their findings. When we pull our information
together we are better able to learn from each other's experiences. Many
genetic testing laboratories currently share a summary of the information they
have about specific genetic changes with other doctors, laboratories, and
researchers. This summary information is very generalized and does not contain
any protected health information such as names, dates of birth, medical record
numbers, or doctors' names. This summary is created by merging information from many
tests together and typically includes the total number of times the lab has
seen a particular genetic change, a group description of the people they have seen
it in, and whether or not they think it's related to a specific genetic condition
and why. For example, a laboratory has seen a certain genetic change in five
people they have tested. The change was found in four females and one male.
Of those five individuals, two were Caucasian, one was African American, and
the other two individuals' race or ethnicity was not specified. Four of the
five individuals had Breast Cancer, one had Ovarian Cancer, and one had Developmental
Delay, which is not a typical symptom for people with changes in this gene. As you
can see, we cannot tell which of the five people had each of these health
conditions. This is helpful but it would be even more helpful if the doctors and
researchers knew more about each individual, not just the group as a whole.
For example, which people had Breast Cancer? Which had Ovarian Cancer? Did
anyone have both? Which one had the Developmental Delay?
Does anyone have other unique genetic changes? Could those be causing their
reported health issues? The Clinical Genome Resource or ClinGen is working
with your registry to ask your permission to share more specific
individual information about any genetic changes you may have to help us better
understand these questions. Clingen is a National Institutes of Health funded
project dedicated to creating a resource that defines how genes and genetic
changes impact health. This effort relies on sharing of this detailed data.
Choosing "yes" on the ClinGen Data Sharing Program consent allows the ClinGen team
to access your genetic and health information within the registry and
share this to improve patient care and advance genetic knowledge. Information
shared could include general information about you such as your age, sex, race and
ethnicity, your health history, your test results, and the reason your test was
ordered. Data sharing would not include your personal identifying information. If
you choose "yes," the ClinGen team may contact you to ask you to upload a copy
of your genetic test results to your registry account and your registry
coordinator may contact you to ask you to complete additional, optional health
surveys. ClinGen also gives you an option to receive potential updates to your
genetic test results if we learn that the genetic change found through your
testing may now be categorized differently than how it is listed on
your report. If you choose "no" on the ClinGen Data Sharing Program consent,
ClinGen will not access your information and your individual information will not
be shared. If you choose to participate, ClinGen may share individual information
with two types of databases and there are benefits to having information
available in both types. An open access database is publicly available to anyone
with internet access and does not require a password. These databases are
most often used by professionals involved in patient care that need quick
and easy access to the information they are looking for. This is particularly
important when a doctor is with a patient or when a laboratory is working on a
case for which their interpretation is needed in a short time frame. Controlled
access databases are not open to the general public. These types of databases
are only available to approved users who request access from an oversight
committee to use it for a specific purpose. These databases are most often
used by researchers with a specific project already in mind. These projects
are often not time-sensitive, so it is easier to go through the full review and
approval process. Because access is controlled, ClinGen may share more
detailed information such as a complete list of all the changes
found during genetic testing. ClinGen also will have access to this de-identified
genetic and health data for ClinGen related activities which may be
displayed on the ClinGen website. Choosing "yes" on the ClinGen Data Sharing
Program consent form allows your individual information to be shared with
ClinGen and in both types of databases. If you're uncomfortable with this, you
should consider choosing "no." When making your decision about participating in the
ClinGen Data Sharing Program, it's important to consider the potential
risks and benefits. A potential risk is the chance you could be identified from
the information shared and that it could be used to discriminate against you in
some way. Your privacy is very important to us and because of this we take
measures to safeguard your personal information. Before anything is shared,
your name, date of birth, and address are removed and a unique numerical code is
assigned. This code is then securely stored which greatly reduces risks to
your privacy, but does not eliminate them completely. Since many genetic changes
are rare, it is possible that you could be one of only a few people in the world
or the only person with a particular genetic change. It is important to
realize that the more widely you share your genetic and health information, the
greater the possibility that you could be identified based on this alone. Keep
in mind that simply telling people that you had genetic testing, even telling
them the gene in which your change is located, is often not enough information
to identify you. We believe the risk of being identified through sharing your
individual information is low, but it is not impossible, particularly if you have
directly shared this information with others. If for any reason someone were to
identify you, a federal law called the Genetic Information Non-Discrimination
Act has been put in place to protect you against discrimination by health
insurance companies, group health plans, and most, but not all, employers. Currently
no federal legislation is in place to cover discrimination by life, disability,
or long term insurance carriers. Laws in each individual state dedicated to
genetic information, privacy, and non-discrimination vary. To learn more
about laws in your state, visit clinicalgenome.org/laws.
clinicalgenome.org/laws. Though you might not see any immediate personal benefits, your
participation may help you, members of your family, and others with the same
genetic change or disease in the future by improving understanding of genetics
and health. You also could potentially connect with
other researchers or clinicians interested in your particular gene or
genetic change, and you have the option to receive updates about your genetic
test results. We hope you have found this video helpful and informative as you
make your decision. Please contact our team if you have any additional
questions at datashare@clinicalgenome.org or 570-214-
1721. Toll-free 855-322-7683
855-322-7683