Genomics for the Child Neurologist Facilitator Guide

Session One: Risk Assessment

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 a case with Fragile X syndrome. A handout will be available for the participants with background information about Fragile X. For more detailed information about Fragile X syndrome, see the following resources: o o GeneReviews: FMR1-Related Disorders: www.ncbi.nlm.nih.gov/books/NBK1384/ McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, and Pettersen BL. 2005. Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors. J Genet Couns 14:249 70. Sherman S, Pletcher BA, and Driscoll DA. 2005. ACMG Practice Guidelines: Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584 - 587. National Fragile X Foundation: www.fragilex.org

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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 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 Speakers connected to computer
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 2. 3.

White board or paper easel with markers, or iPad hooked to projector. Hard copy materials Pens Set up the following handouts by the door so that participants can pick them up on the way in: Risk Assessment Toolkit (6 pages) Soledad handout [evaluation survey] You should also have the Fragile X 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. 5. Load the family history video onto the same computer and insert the video into the powerpoint slides: On slide 13, click on the Insert tab in powerpoint. Click on Video (or Video from File). Select the video file from where you have saved it on the computer. Move and adjust the size of the video screen as needed. Test the video to ensure it launches appropriately. In Slide Show mode, you will be able to click on the video to launch.

1.1 Opening, introductions, housekeeping

[Welcome the attendees and introduce the facilitator] This workshop is the first 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 first session focuses on genomic risk assessment, which is the first step and foundation for genomic evaluation and management in the clinic. The subsequent workshops will build on this one by exploring: o The practical issues around creating a genetic differential diagnosis, 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.

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Others can handle all aspects of ordering, interpreting, and acting on results. 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 Soledad, 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 Overview of genomics of neurologic disorders

Key Points: Neurologic disorders are complex diseases influenced by both genes and environment. The genomic contribution to neurologic disease runs the spectrum from single gene-high penetrance to multiple genes-low penetrance. Neurological diseases with a single gene etiology are inherited in all patterns. Learning objectives for the session: 1. Take a family history with sufficient detail 2. Recognize genetic red flags 3. Analyze a detailed family history 4. Develop an appropriate evaluation plan based on personal and family history assessment 5. Communicate with families about genetic information

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1.3 Essential questions when collecting a genomic family history

1. We need to ask questions about how the disease manifests, and in whom, and how are they related to your patient. 2. Large group activity: Probe group about family history questions in Josephs case 3. Large group activity: Watch demonstration of taking a targeted family history 4. Debrief and make sure to emphasize these points: We want to identify the family structure o o o o Are relationships full, half, step? Need to ask about unaffected relatives - important for accurate risk calculations Need to ask about both maternal and paternal relatives. Third degree relatives (cousins) can be critical for some conditions.

We want to know about the presence and extent of disease who has disease and the brief clinical history of those affected Ages of onset and death Medical conditions and Chronic illnesses Anyone with a history of infertility, multiple miscarriage, or stillbirth Intellectual disability or autism Congenital birth defects

It is important to get specific details if anyone has any of these conditions, because they can be associated with some syndromes. 5. Communication regarding both the collection and interpretation with the family can help to elicit accurate and detailed information and aid in understanding and patient acceptance. 6. It is important to not only collect the information but also record it in a way that other health professionals can readily access, update, and interpret the information.

1.4 Identifying genomic red flags in the family history

1. Red flags are disease characteristics that indicate increased genetic contribution to disease (genetic predisposition). 2. Large group activity: Identify red flags in Josephs family history 3. Debrief and make sure to emphasize these points: Josephs family demonstrates earlier age of onset, intellectual disability / developmental delays, severe manifestations, and disease in the absence of risk factors. 4. Using clinical guidelines for testing decisions

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1.6 Identifying inheritance patterns that aid genetic test selection

1. 2. 3. 4. Inheritance patterns can inform your differential diagnosis and testing strategy. Review patterns and see how they fit in the case Large group activity: based on red flags and inheritance patterns determine diagnosis. Even when collecting a targeted family history, you may identify genetic risks unrelated to the patients HPI.

1.7 Patient centered risk communication strategies

1. Large group activity: reflect on how and what to communicate with families about the risk assessment. 2. Communication regarding the family history assessment findings can aid in family understanding and compliance, and promotes shared decision making. 3. An individuals level of comfort with genomic evaluation determines if genetic testing and/or referral to a genetics professional is the best next step.

1.8 Small group practice and debrief

Break into groups of 3 5 and work together on the case for about 10 minutes. Have groups read through Soledads history and then work through the discussion questions with your group. Have them refer to the toolkit to help identify red flags, inheritance patterns, and communication strategies. 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.

-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. Pull up the pedigree on the following slide after a few minutes so that the participants to not spend too much time trying to draw a pedigree (not the goal of the activity). Assemble the large group and have the designated person in each group report each of their answers to the large group.

1.9 Risk assessment in complex disease

Risk assessment for complex, or common, conditions should consider a combined effect of genetic contribution to disease development and contributions from environmental, developmental, and lifestyle factors.

1.10 Summary, reflections and setting the stage for session 2

1. Collect history that indicates family structure and manifestations of disease

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2. Assess patterns and red flags 3. Use risk to adapt plan for genetic testing, management, counseling etc. 4. Communicate with families about risk in a patient centered way 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 2. Homework: additional practice exercises: visit www.nchpeg.org/neuro and click on the health professional tab, then the Risk assessment title link.

Preview next session: we will build on what we learned today in the next session on genomic differentials.

1.11 Evaluation and follow-up

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

From the authors: We would love to hear your feedback about your experience using this curriculum! Contact Emily Edelman (eedelman@nchpeg.org) with any questions or feedback.

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