Testing Options

Testing Options

With rapidly emerging genetic tests available, each offering many potential benefits, genetic testing may soon become part of every routine health care visit. Unlike other medical tests, however, genetic testing can have far-reaching implications for the individual and other family members.

Genetic counselors provide both pre- and post-testing counseling to clients. Pre-test counseling includes informing the client of their various test options, facilitating decision making, identifying other at-risk family members, and obtaining informed consent. Post-test counseling includes disclosing genetic testing results, providing psychosocial support, and helping the client make a plan for the ‘next steps.’

Genetic counselors engage in an active assessment process by contracting with the client. It is often helpful to start the session by asking clients whether they have thought about genetic testing and if so, how they feel about it. Some clients may assert strong opinions. Other clients may have no opinion or be uncertain as to what genetic testing entails. The genetic counselor listens to the client’s perspectives, and respectfully engages the client in collaborative discourse to best meet his/her needs, while being sure to cover the relevant information. After contracting and providing the relevant medical and genetic information, the genetic counselor then reviews the testing options (diagnostic, screening, predictive, and research) with the client.

Who to Test?

The genetic counselor identifies which, if any, genetic tests are appropriate based on the client’s medical history, family history, and individual needs. For certain tests, the counselor must determine which family member is the most informative person to test. The genetic counselor reviews all medically appropriate testing options, including the option of not having any genetic testing. In reviewing the various testing options, the counselor should not make assumptions about client testing preferences. The session should afford time and opportunities for the client to share his/her perspectives on testing in general, and the implications of each option. Individuals whose family background places more emphasis on the family unit and/or the community than on the individual may perceive testing choices differently than individuals (and counselors) whose Western health care orientation emphasizes preserving patient autonomy.

The genetic counselor explains possible testing outcomes, the implications of genetic testing, and information about costs, risks, benefits and limitations of testing. The pre-test counseling session includes discussion of various possible outcomes of the test. For example, clients undergoing gene sequencing are informed that some people learn they have a variant of uncertain significance, and prenatal clients undergoing a CVS are informed of the small possibility for maternal contamination of the fetal cells, or obtaining no diagnostic information.

The genetic counselor provides anticipatory guidance and helps facilitate decision making regarding genetic testing. In the pre-test counseling session, the genetic counselor helps clients anticipate the range of emotions they and/or their family members may experience. The counselor may use various counseling techniques such as posing scenarios and exploring the client’s feelings and reactions to those scenarios. By providing anticipatory guidance, the clients can begin to consider their thoughts and feelings regarding negative, positive, or inconclusive test results. Anticipatory guidance also includes identifying other at risk family members in the pre-test counseling session and educating the client about how his/her test results may affect other family members. If this topic is not explicitly discussed prior to genetic testing, individuals who test positive may feel overwhelmed over the responsibility of sharing their genetic test results with other family members (Daly et al., 2001). By identifying at risk family members and discussing the implications genetic testing can have for both the client and his/her family members, the genetic counselor also models communication skills that the client might use when discussing his/her results with the family.

Each client has unique needs and the genetic counselor must identify and clarify those needs, explain the testing process, assess client understanding, facilitate decision making and ensure informed consent. It is important for the genetic counselor to remain unbiased and provide information for all genetic tests available regardless of what decision the counselor feels the client may make.

Test Interpretation

Genetic test results are usually reported by the laboratory in a written document. This document generally includes the following demographic information: name of the patient, the date of birth of the patient, medical record number, the ordering physician, the laboratory that performed the test, the type of test, the results, and whether there were any problems conducting the test. Some test results will also provide a written interpretation of the results and implications for the client’s health management. Upon receipt of these results, the genetic counselor checks to make sure that the demographic information is correct, confirming that the results are for this client and that the laboratory performed the specified test (Baker et al., 1998). Sometimes the laboratory must be contacted to seek clarification and/or reinterpretation (Baker et al., 1998). The genetic counselor may need to research the test findings to identify previously reported cases that may help determine clinical management. The counselor undertakes these quality assurance steps to rule out discrepancies and ensure that the correct results are shared with the client.

Test result documents are generally written for the health care provider, and not with the client in mind. Although clients may want a copy of the results for their records, which should be encouraged, the counselor should thoroughly review test result reports with the client to clarify all words and concepts. In addition, the counselor may write a summarizing letter or document to supplement the explanation of test results and that is written at an appropriate level of health literacy for the client.

Test Results

“There should always be a plan for communicating test results” (Baker et al., 1998).  During the pre-test counseling session, the genetic counselor and client discuss how test results will be communicated. The counselor shares when the results should be available, and makes a plan with the client to get results by phone, written letter, or in a follow-up visit. Many counselors prefer giving both positive and negative test results in person, the optimal setting for addressing any psychosocial issues. In certain time-sensitive situations, it may be necessary for the genetic counselor to disclose the results via telephone and also schedule a follow-up visit. For example, it is appropriate to follow up in this manner on CVS test results that will be used to making decisions about continuing a pregnancy (Baker et al., 1998). Counselors should be mindful of religious practices or holidays that do not permit certain patients to talk by phone or come for a visit, such as on the Jewish Sabbath.

An awareness of general cultural norms is helpful, but these norms will not describe the needs and practices of any individual family. It is good practice to ask family members about their preferences for communicating with them (Levetown, 2008). Questions genetic counselors may ask (modified from Levetown, 2008) include:

  • “How should I give your family information about…the patient…or the genetic test results?”

  • “With whom do I share the information?”

  • “Who generally makes decisions in your family?”

  • “Are there topics that should not be directly addressed in your family?”

Providing repeated opportunities for clients to ask questions, allowing for long periods of silence in the session, inviting family members to the session and time to consult with others on decisions, and providing written summaries or tapes of conversations may facilitate client understanding through sharing information with others (Levetown, 2008).

Communicating “negative” test results may seem like a straightforward task. Upon closer examination, however, these test results may present unique challenges and may not be perceived by a client as good or welcome information (Veach et al., 2003). The genetic counselor should be extremely sensitive when phrasing test results. Stating that the test came back “normal” could imply that there is no need to worry about anything. To the genetic counselor, it may seem obvious that genetic tests have limitations, but this should be clearly conveyed to the client (Veach et al., 2003). Each client has unique needs and responses with respect to genetic test results. The genetic counselor can anticipate some of these psychosocial issues in the pre-test counseling session by using scenarios and hypothetical questions.

Communicating “positive” test results also poses unique challenges. “Abnormal” test results may also not evoke the expected emotions. While many clients respond by crying, showing anger, denying, etc., some clients will feel relief to finally have an answer to their medical problems (Veach et al., 2003). To a client who has seen many specialists and has found no cause to their health problems, receiving news of having a genetic condition may be welcomed. The genetic counselor should never assume that he/she knows how the client will respond to test results, but he/she should always be prepared to provide psychosocial support. When communicating undesired test results to clients, it is important to speak slowly, use pauses, and convey information in chunks so to help the client absorb the news (Veach et al., 2003).

The counselor may communicate abnormal results to a client using a modification of the 6-step protocol suggested by Buckman (1992). The affective relationship between the informant and the client impacts the client’s ability to process bad news (Levetown, 2008). Clients often prefer the health care provider to convey less information and place more emphasis on establishing trust. As a general rule, the counselor will rely heavily on using basic counseling skills and providing support.

  • Empathy…”I can see you that were not expecting this.” “You had great hopes for your baby.”

  • Unconditional positive regard: “You did everything possible to have a healthy baby. There are lots of things we don’t understand about why some chromosome abnormalities occur.”

  • Genuineness: “I am so sorry to have to share this information with you. I truly wish that the news would have been different.”

  • Support: “I am here for you, today, next week, and for as long as I can be helpful. This is a lot to absorb. You don’t have to do anything right now.”

The genetic counselor should not provide false reassurances or discourage the client from sharing his/her emotions. If a client is having difficulty coping with the test results, it may be useful to schedule another counseling session to give the client time to absorb the information and seek comfort in family and friends. Any follow-up information regarding what the test results mean for medical management or risks to other family members will be more useful when the client has had time to process the abnormal test result.

 

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