Genetic Testing Process Toolkit

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    Genetic Testing Process ToolkitInformed Consent & Pre-Test Counseling Checklist

    Published September 201 NCHPEGAll rights reserved

    Informed consent is an important step in the genetic testing process. In addition to being required by state laws and laboratories,

    thorough pre-test counseling will save you time when you discuss genetic testing results with the family.

    Discussion of these key points helps prepare the family for the potential outcomes and limitations of genetic testing. Use the

    accompanying handout on clinical examples and talking points for further illustration and practice.

    Checklist

    Communicate goals of testing Information about the test

    Purpose of testing Description of the disorder that will be tested for Ability of test to detect disease

    Potential benefits, risks, and limitations of testing See risks and benefits table (below) Confidentiality protections Genetic discrimination risks and protections

    Assess family goals and expectations Set Expectations Potential results

    Positive Negative Variant of uncertain significance

    May need parental/family testing Unanticipated results

    Non-paternityConsanguinityDifferent genetic alteration identified than anticipated (in whole genome analysis)Diagnosis unrelated to patients presentation (e.g., diagnosis of an adult-onset syndrome)

    Logistics of testing Payment and insurance pre-authorization Disclosure of results

    Phone vs. in person Who can results be disclosed to? Anticipated turn-around-time

    Potential specimen retention Document the informed consent discussion in the patients medical record

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    Published September 2013 NCHPEG

    All rights reserved

    Benefits, Risks and Limitations of Genetic Testing

    Potential Benefits Potential Limitations/Risks

    Diagnose or identify the cause of a childs symptoms Possibility of uncertain variants or unanticipated results

    (e.g., consanguinity, non-paternity)

    End search for a diagnosis Possibility of a false negative or not coming to a

    diagnosis; May not identify all possible gene mutations

    Inform personalized management and treatment Treatment/management may not be clear with some

    results

    Provide prognostic information for the patient If predictive testing, not all patients with a gene

    mutation will go on to develop the disease

    Identity recurrence risk to other relatives Increases anxiety

    Causes blame, guilt, or secrecy in the family

    Labels a patient with a diagnosis or specific risk,

    increasing concerns about discrimination

    Psychological and social issues related to genetic testing

    The importance of psychosocial issues necessitate that the genetic counseling and informed consent process always accompany the

    genetic testing process.

    Most patients report being satisfied with their testing decisions Some degree of uncertainty associated with all test results that can result in anxiety Some patients may react negatively to either a positive or negative test result

    o Survivor guilt in a mutation-negative individualo No cause for neurologic symptoms identified in mutation-negative yet symptomatic individualo Guilt for potentially having passed on a mutationo Difficulty adjusting to an unanticipated incidental finding

    Social issueso Child bearingo Selecting a careero Selecting a marriage partnero Screening in childhoodo Insurabilityo Employability

    Resources

    American Medical Association: Informed Consent

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    Genetic Testing Process ToolkitInformed Consent Tips & Talking Points

    Published September 2013 NCHPEG

    All rights reserved

    Implications of a negative test result

    Key Point Why is this Important for My Patient? Example

    Like many other screening or diagnostic tests, thesensitivity of genetic testing is less than 100%. A normal or

    negative result could be a false negative, and does not rule

    out:

    1. the possibility of an alteration in this gene/area ofinterest that the testing was unable to detect, or

    2. An alteration in another area of the genome notassessed on this test, which may be associated with

    the syndrome of interest.

    It is important for the family to understandthat a negative test result does not rule out

    the possibility that the patient has the

    suspected genetic syndrome or a related

    disorder. Genetic testing can produce results

    that require additional testing or

    interpretation.

    A patient undergoes GFAP genetic testing for AlexanderDisease. The laboratory test is not designed to detect

    mutations in the promoter region of the gene. If patient has a

    mutation in the promoter region, this would explain her

    clinical diagnosis of Alexander disease based on MRI findings

    and clinical presentation, but it would not be detected by this

    particular test.

    Testing o f family members may be needed to ful ly interpret the test result

    Key Point Why is this Important for My Patient? Example

    It may be necessary to test other family members, such as

    parents or siblings, to interpret the patients genetic

    testing results.

    Parents need to understand that a test result

    may not provide a final answer and that

    genetic tests require interpretation and

    familial samples in some cases.

    A patient is found to have two novel (never seen before) and

    unclassified (may or may not be pathogenic) mutations in the

    GJC2 gene, which is associated with Pelizeaus Merzbacher Like

    Disease (PMLD). PMLD is a recessive disorder. Further testing

    is needed to determine if these two mutations are in cis (on

    the same chromosome) or in trans (on opposite

    chromosomes). If they are in cis, then these mutations do not

    explain the patients symptoms. The best way to determine

    whether two mutations are in cis or trans is to test the parents

    to confirm that each carries one of the mutations.

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    Published September 2013 NCHPEGAll rights reserved

    Clinically significant unanticipated findings

    Key Point Why is this Important for My Patient? Example

    Genetic testing can identify clinically important findings

    unrelated to the reason for testing.

    It is important for the family to understand

    that test results may have implications

    outside of providing a diagnosis, and in fact,

    they might learn unanticipated information

    without learning anything about the etiology

    childs disease.

    Your patient undergoes genetic testing for multiple nuclear

    genes involved in mitochondrial function. Testing reveals a

    single heterozygous mutation in one of these genes. Because

    all of the genes in this panel are associated with recessive

    diseases, this does not provide a diagnosis. Rather, this result

    indicates that this patient is a carrier of a genetic condition

    that affects mitochondrial function. This could have

    reproductive implications for this patients and her parents

    future.

    Undisclosed family relationships

    Key Point Why is this Important for My Patient? Example

    Genetic testing can reveal undisclosed family relationships. Families need to be informed that non-

    paternity, or other potentially sensitive family

    relationships such as consanguinity or incest,

    can be revealed.

    A patient is diagnosed with Tay-Sachs disease, an autosomal

    recessive disorder. The patient has compound heterozygous

    mutations, but confirmatory parental testing only identifies

    the patients mother to be a carrier. The father is not a carrier.

    While there is a possibility of a de novo mutation, non-

    paternity must be considered.

    Payment & insurance pre-authorization

    Key Point Why is this Important for My Patient? Example

    Testing methods are complex and are evolving. Some

    insurance companies will not cover genetic testing for thisreason, and letters of appeal may need to be written by to

    argue for the clinical utility of the testing despite the

    potential limitations of the testing. (Consider obtaining

    pre-authorization for genetic testing from the patients

    insurance company before ordering a genetic test.)

    Many families cannot afford to pay for

    genetic testing out-of-pocket. It is importantto check with the insurance company before

    testing is ordered to obtain approval before a

    test is ordered to avoid financial hardship.

    A patient has an insurance company that does not cover the

    specific CPT codes that are associated with a genetic test. As aresult, the genetic test that was ordered is not covered by

    insurance, and the patient gets a $1,500 bill.

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    Published September 2013 NCHPEGAll rights reserved

    Risk of Genetic Discrimination

    Key Point Why is this Important for My Patient? Example

    While GINA is in place to prevent discrimination based on

    genetic information, there are still opportunities for this

    type of discrimination to occur. Parents/patients should

    take this into account when deciding whether or not to

    consent to a genetic test. Genetic counseling can help

    elucidate the types of genetic information that may be

    revealed that may be potentially problematic for family

    members.

    Families need to be aware of the existence

    and limitations of GINA before testing is

    done.

    An 18-year old patient undergoes genetic testing to determine

    if she has inherited her fathers trinucleotide repeat expansion,

    which causes Huntingtons disease in her family. She receives a

    positive result. Although GINA protects this patient from

    employment and health insurance discrimination, this

    patients life insurance premiums can still increase. Also, if she

    is found to have onset symptoms, even very subtle ones,

    health insurance and employment discrimination may still be a

    risk.

    Potential specimen retention

    Key Point Why is this Important for My Patient? Example

    Many labs use stored DNA for their own research efforts.

    For questions relate to the type of research done on stored

    samples, contact the lab if a patient/parent wants

    additional information before deciding whether or not to

    allow a sample to be stored for research.

    Some families may feel uncomfortable with

    their genetic information, even if it is de-

    identified, being used for reasons unrelated

    to their own health. It is important that

    families understand that they have a choice

    whether or not to allow the lab to keep and

    use their samples.

    A genetic testing lab uses de-identified patient samples as

    controls to perform quality control tests for their newly

    developed genetic tests.

    Plan for results disclosure

    Key Point Why is this Important for My Patient? ExampleAt the time that the sample is sent for testing, it may be

    good practice to set up a time for the patient/parent to

    come back to clinic for results disclosure around the time

    the test results are expected to be available. Having an

    appointment set up for this can facilitate an expected and

    dedicated time for discussing the implications of positive,

    negative, and uncertain testing results.

    For diagnoses that are potentially

    devastating, it is important for families to

    have clear expectations of how and when

    they will receive results. This eliminates the

    anxiety and agony that patients may feel

    while waiting for a phone call. It also allows

    families to activate their emotional support

    networks so that friends/families/clergy/etc.

    are available at the time of results disclosure.

    A patient undergoes genetic testing for neronal ceriod

    lipofucionosis. The test comes back positive. Based on the

    knowledge that the testing has a turn-around time of 4-6

    weeks, you have set up a time 6 weeks from the time the test

    was sent for the family to come back to the clinic to receive

    the results from you in person.

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    published July 2012

    NCHPEG

    All rights reserved

    Genetic Testing Process ToolkitCollaborating with and referring to genetics

    Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications

    of genetic contributions to disease. This process integrates risk assessment, education, and counseling. In some cases, it includes

    the offer and interpretation of genetic testing. The purpose is to help the patient and family to interpret and adapt to the genetic

    information, and make informed decisions based on his or her understanding of risks.

    Genetic counseling is best provided by specialists with knowledge and experience in clinical genetics, such as genetic counselors,

    physician geneticists, and advanced practice nurses trained in genetics. All providers, however, play a role in the genetic counseling

    process by:

    identifying patients who would benefit from genetic counseling, including patients who have personal or family histories

    suggestive of a hereditary syndrome;

    providing referral to genetic counseling services,

    informing patients about the reasons for and benefits of genetic counseling;

    helping patients identify what family medical information will be necessary for risk assessment;

    using the outcome of the genetics consultation to identify screening, risk reduction, and management plans; and

    answering questions for patients.

    Genetic counseling isalso appropriate forpatientsatincreasedriskwho do notwishtopursue genetic testing, andin

    cases where the patientsriskstatus is uncertain. For questions about the need for referral, consult with the specialist.

    Locating A Genetics ProfessionalAmerican College of Medical Genetics:www.acmg.net

    National Society of Genetic Counselors:

    www.nsgc.org

    GeneTests Clinic Directory:

    www.genetests.org

    http://www.acmg.net/http://www.acmg.net/http://www.nsgc.org/http://www.nsgc.org/http://www.genetests.org/http://www.genetests.org/http://www.genetests.org/http://www.nsgc.org/http://www.acmg.net/
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    published July 2012

    NCHPEG

    All rights reserved

    Checklist for Collaboration with a Genetics ProfessionalHow to use this tool: This tool outlines the information you should include when referring a patient for genetic evaluation. You can

    print and fill it out for a patient, adapt it to use as a clinic form in your own practice, or transcribe the elements into an electronic

    referral form or template.

    Reason for Referral/Histor y of Presenting Illness:

    Developm ental History

    On time () Delayed () Regression ()

    Gross Motor

    Fine Motor

    Speech

    Review of Systems and Physical Exam

    () if normal

    Constitutional Musculoskeletal

    Eyes Skin

    ENT/Audiology Psychiatric

    Cardiovascular Endocrine

    Respiratory Hematology

    Gastrointestinal Allergy

    Genitourinary Immunology

    Comments:

    Labs / Studies

    Normal () Abnormal () If abnormal, explain

    EEG

    EMG

    BAER

    MRI

    CT

    LP

    Metabolic

    Genetic

    Family History

    () if

    applicable

    Describe relationship to patient

    DD

    MR/ID

    Stroke

    Headache/

    Migraines

    Seizures

    Consanguinity

    Other

    Unremarkable