Genomics for the Child Neurologist Facilitator Guide

Session Two: Evaluation & Testing Decisions

Background for Facilitator

This guide will help you implement the curriculum for your audience. It includes tips for preparation, setting up your workshop, and facilitating the session and working with your audience.

Pre-Workshop Preparation
You should plan to spend about 3 6 hours preparing for this workshop. This includes: 1. 2. 3. 4. Identifying the needs and expectations of your audience. Reviewing and practicing with the curriculum. Customizing the slides and script for your audience as needed. Printing hardcopy materials.

It is critical that you review and practice with the material prior to implementation with your audience. The impact of the learning is heavily influenced by the skill and preparation of the facilitator. This session includes cases with Spinocerebellar Ataxia and Angelman syndrome. A handout will be available for the participants with background information about Angelman syndrome. For more detailed information about Spinocerebellar Ataxia, see the following resources: o o GeneReviews: Hereditary Ataxia Overview and Spinocerebellar Ataxia type 2 National Ataxia Foundation

For more detailed information about Angelman syndrome, see the following resources: o o o GeneReviews: Angelman syndrome Pelc K, Boyd SG, Cheron G, Dan B. 2008. Epilepsy in Angelman syndrome. Seizure 17:211-217. Angelman Syndrome Foundation

Facilities Preparation
Setting up 1. Make sure the room set-up is conducive to group learning. Recommended equipment includes: Appropriate space for your audience size

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Ideally, participants will be seated at tables and have the opportunity to move chairs around for small group work Computer hooked up to an overhead projector Internet connection is deal but not required Speakers connected to computer White board or paper easel with markers, or iPad hooked to projector. Hard copy materials Pens 2. Set up the following handouts by the door so that participants can pick them up on the way in: Evaluation & Testing Decisions Toolkit (4 pages) Nico handout (3 pages) [evaluation survey] 3. You should also have the Angelman syndrome take-away available to distribute at the end of the session, before participants leave. 4. Load the slides onto the computer that is connected to the projector.

1.1 Opening, introductions, housekeeping

[Welcome the attendees and introduce the facilitator] This workshop is the second of a four-part series on genomics in the Child Neurologists practice. The overall goal of this program is to improve the integration of genomics into the child neurologists practice by focusing on competencies in: o Collecting and analyzing family health history, o Synthesizing family and patient history for risk assessment, evaluation and management, o Determining the risks, benefits, and limitations of appropriate genetic testing, o Providing pre-test education and counseling, o Interpreting results of positive, negative, and variant, and o Communicating with families about genetic information. This second session focuses on evaluation and testing decisions, which builds on the concepts of risk assessment that we discussed in the last session. The subsequent workshops will build on this one by exploring: o Ordering and interpreting genetic test results, o Managing unanticipated findings from testing, and o Communicating with patients about test results. As you know, neurologists practice in many different settings and have many different areas of clinical specialty. Because of this, we cover the range of clinical activities that a clinician might take in a given area of genetic practice. o For example, some neurologists feel very comfortable ordering genetic/genomic tests, but not as comfortable interpreting results. o Others can handle all aspects of ordering, interpreting, and acting on results.

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o o

Others have expertise in a specific area, like NF, and can manage all of the genetic issues with that syndrome, but may not be as comfortable with genetic testing and management in other clinical domains. We have tried to address all of these different perspectives. The goal of each session is to help the learner self-reflect on where he or she is already doing well, and where he or she could benefit from additional practice, and then give that learner an opportunity to practice and to improve. And that balance may be different for each individual.

This workshop is not like your typical lecture. This is an interactive experience where you actively participate and practice working through genomics cases. You will work through cases together both as a large group and in small groups. Because the learning process is active it hinges on your participation. I encourage you to feel comfortable participating and speaking out during the session. We can learn from each others experience and discussion.

Housekeeping You all picked up some materials on your way in. You have a stapled toolkit that you can reference during the workshop today and take with you to use in clinic, if helpful. You have a handout on Nico, a case that we will be working through. [And you have an evaluation survey. You can job down notes during the session, and Ill give you a few minutes to fill it out when we finish.]

Any questions? Lets get started!

1.2 Recap from Session 1 and introduction to genomic evaluation & testing decisions
Key Points: There are three essential skills in family history assessment for genetic risk. There are a number of decisions to make between risk assessment and ordering genetic testing. Evaluation and testing decisions do not necessarily involve discreet steps that can be generalized from case to case. Cost-effective evaluation is informed by the data you gather in risk assessment Learning objectives for the session: 1. Use family and clinical histories to narrow the differential 2. Select the appropriate single-gene test, panel, or step-wise protocol 3. Develop a family testing strategy to maximize cost-effectiveness

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1.3 Narrow the differential

1. The first step in genetic testing is to narrow the differential. 2. Large group activity: Work with the group to create a differential diagnosis in Tims case, beginning with a broad and general list and narrowing it down to a few more likely possibilities. a. Step 1: Rule out non-genetic causes b. Step 2: Use tools to identify potential genetic diagnoses i. Introduce tools ii. Ask the participants to discuss what tools they have used to aid in formulating a differential diagnosis iii. If time allows and internet is available, demonstrate the functions of the tools. c. Step 3: Refine the differential with distinctive patient features 3. Large group activity: Probe the group on which of Tims features may help to refine and prioritize the differential. 4. Debrief and make sure to emphasize these points: Both presence and absence of distinctive features can inform your differential, so be sure to note both. We can shorten our list of probable diagnoses significantly by looking at distinctive features. Family history patterns can be critical to refining your differential.

5. Large group activity: Discuss the patterns and flags in Tims family history that may help narrow the differential. 6. Debrief and make sure to emphasize these points: Family history is suspicious for autosomal dominant inheritance with anticipation. Records should be confirmed when possible. Spinocerebellar ataxia is the most likely condition based on suspected inheritance pattern. Inheritance patterns can rapidly narrow your differential when the family history is distinctive. Family history assessment can save you time.

7. Discuss a brief overview of the most likely condition on the differential, Spinocerebellar Ataxia.

1.4 Select appropriate tests

1. 2. 3. 4. 5. Continue on with Tims case to discuss how to make decisions about appropriate genetic testing. Tools are available to identify genes associated with a condition. A disease may be associated with just a single gene, or with any one of a multiple number of genes. Use gene frequency and phenotype data to identify the most likely candidates for testing. Large group activity: Discuss with the group what kind of testing they would start with in Tims case (e.g., targeted testing vs. a panel) 6. Debrief and make sure to emphasize these points: a. When subtypes are equally common and cant be distinguished clinically, use a multi-gene panel. b. There are situations where targeted testing is the clear choice. c. Consider detection rate, limitations, and costs of available technologies to guide your decision. 7. Support is available to improve your evaluation and testing decisions: Consider referral or consult for refining differential and targeted testing.

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1.5 Develop a family testing strategy

1. Once weve determined WHAT we will be testing for, it is important to identify WHO in the family to test. Often testing can start with the patient, but we will also talk about situations where testing the patient isnt the best first step. 2. Large group activity: Looking at Tims family history, discuss who else in the family is at risk for SCA. 3. Debrief and make sure to emphasize these points: a. First degree relatives have a 50% risk of an autosomal dominant condition like SCA, second degree relatives have a 25% risk. b. It is best to begin testing in an affected individual, or risk uninformative results. c. A negative result is uninformative in at-risk relatives if the causative variant is unknown. d. For the most cost-effective approach, target testing when the family mutation is known. 4. Communicate with the family about risk, test decisions and strategies, and next steps.

1.6 Small group practice and debrief

-Hints Walk around the room to hear what the groups are saying and assess their understanding so you can tailor your answers to target areas of misunderstanding. Assemble the large group and have the designated person in each group report each of their answers to the large group. Break into groups of 3 5 and work together on the case for about 10 minutes. Have groups read through Nicos history and then work through the discussion questions with your group. Have them refer to the toolkit and information provided in the Nico handout to help distinguishing clinical features, differential diagnosis, and appropriate testing. Have each group identify one person to be spokesperson for the group. After you discuss as a small group we will reconvene and discuss your findings with the larger group.

1.7 Summary, reflections and setting the stage for session 2

Use tools, unique features and inheritance patterns to narrow your differential. Consider genetic heterogeneity when selecting from single-gene, multi-gene panels, or step-wise tests Start testing with an affected individual Target testing for known causative familial variants in at-risk family members Consider referral or consultation with complicated differentials and testing options

Assign Homework to be completed by the next session. Consider a short review of the web exercises as a review at the beginning of session 3. Homework 1. Watch two 5 minute demonstration videos on SimulConsult

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2. Additional practice exercise: visit www.nchpeg.org/neuro and click on the health professional tab, then the Evaluation & Testing Decisions title link. Preview next session: we will build on what we learned today in the next session on genetic testing.

1.8 Evaluation and follow-up

If you have distributed an evaluation survey, collect the surveys and analyze the data.

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