Where do I start? Practical information for a genetics clinic visit Susan Fernbach, RN, BSN Director of Genetic Outreach Baylor College of Medicine Texas Children’s Hospital fernbach@bcm.edu

我從哪裡開始？ 遺傳諮詢門診的一些實用資料 Susan Fernbach, RN, BSN Director of Genetic Outreach Baylor College of Medicine Texas Children’s Hospital fernbach@bcm.edu

Overview Review the incidence of children born with birth defects or developmental disabilities Explain the process of genetic evaluation Discuss the benefits of genetic evaluation Identify local and national resources

概述 查看子女具有出生缺陷和發育障礙的發生率 解釋遺傳評估的過程 討論遺傳評估的好處 認定地方和國家資源

Genetic conditions are not contagious 遺傳條件是不會傳染的

Children born with birth defects About 1 in every 33 babies is born with a birth defect such as spina bifida, heart defect, eye abnormalities, cleft lip and palate, chromosome abnormalities and arm and leg abnormalities www.cdc.gov Centers for Disease Control and Prevention

有出生缺陷的兒童 大約每33個嬰兒中就有一個孩子有出生缺陷，如脊柱裂，心臟缺損，眼球畸形，兔唇，染色體異常以及手臂和腿部異常 www.cdc.gov. 疾病控制及預防中心

Children with developmental disabilities Developmental disabilities (DDs) are common: about 1 in 6 children in the U.S. had a DD in 2006–2008. http://www.cdc.gov/ncbddd/developmentaldisabilities/index.html

有發育障礙的兒童 發育障礙是常見的: 在2006-2008年期間，美國約有六分之一的兒童有發育障礙 發展障礙是常見的 有發育障礙的兒童 發育障礙是常見的: 在2006-2008年期間，美國約有六分之一的兒童有發育障礙 http://www.cdc.gov/ncbddd/developmentaldisabilities/index.html

Why have a genetic evaluation? Is there a genetic cause to the child’s problem? What is the diagnosis? Make treatment plan and check for known complications with disorder Parents as well as brothers/sisters may benefit from evaluation and screening Learn the recurrence risk or chance to have another child with same condition

為什麼要做遺傳評估? 孩子的問題是否因遺傳而起? 診斷結果如何? 定下治療方案,檢查已知的併發症與疾病 父母以及兄弟/姐妹可以從評估和篩選受益 了解再發的風險，即下一個孩子有相同病況的再發率

Before the visit: Before the visit: Genetic Counselor or Nurse may call to obtain family history information and ask about pertinent medical records, lab reports, imaging studies, autopsy results May ask family to bring photos of child and other family members

門診以前 在門診前：遺傳諮詢師或護士會打電話取得家族病歷史，詢問相關的醫療記錄，驗血報告，影像檢查報告及驗屍報告 可能要求帶來孩子和其他家庭成員的照片

Before the visit Check if anyone in the family has medical problems such as developmental disabilities, learning problems, birth defects, miscarriages, stillbirths, infant deaths, severe childhood illnesses, cancer

在門診前 檢查家裡是否有人有醫療問題，如發育障礙，學習障礙，出生缺陷，流產，死產，死嬰，嚴重的兒童疾病，癌症

My Family Health Portrait: https://familyhistory.hhs.gov

我家庭的健康史料： https://familyhistory.hhs.gov 使用我家庭的健康史料，您可以： -輸入您的家族健康史， -打印您的家族健康史,與家人或 醫護人員分享， -保存家族健康史的檔案,以便隨 時更新。 和醫護人員談你的家族健康史可以幫助您保持健康！

Family Health History male female Male Female Autism or TAKE 3 or more generation pedigree Female Autism or Intellectual disabilities

Family Health History 男 女 男 女 自閉症或 發育障礙 TAKE 3 or more generation pedigree 女 自閉症或 發育障礙

During the visit Family Health history Medical history of child Physical exam of child Discuss clinical impression and test recommendations: blood and urine tests, imaging exams, etc.

門診時 家族健康史 孩子的病歷 孩子的體檢 討論臨床印象和測試建議：血液和尿液檢查，影像檢查等。

Testing Test results are available in days to months When diagnosis made, family contacted by phone with results and a follow-up visit is scheduled as soon as possible.

測試 測試結果可能要幾天到幾個月才出來 當作出診斷，診所會通過電話聯繫家人報告結果，並及早預訂續診。

When Diagnosis is Made: Provide information about the cause Features of the disease or condition What to expect over time Plan specific treatment and management Arrange for other consults if indicated Neurology, developmental peds, cardiology, ophthalmology

當診斷出來時： 提供你有關病因的資料 疾病的特徵 隨著時間的推移你能預期什麼 規劃具體的治療和管理 依照醫生指示安排其他諮詢，如神經科，發育小兒科，心血管內科，眼科

When Diagnosis is Made: Counseling Includes Inheritance Pattern Recurrence risk and reproductive options Testing for other family members may be indicated Offer information, support, resources

當診斷出來時：諮詢包括 遺傳模式 再發風險和生育選項 其他家庭成員可能也需要測試 提供資料，支持及社會資源

Benefits of the genetic evaluation for the child and parents

孩子和父母因遺傳測試所得到的利益

Benefits of genetic evaluation for the child Early diagnosis and recognition may influence long-term outcome Find appropriate medical & non-medical therapies as soon as needed Screen for associated complications or disabilities before symptoms seen Avoid unnecessary testing & evaluations Help with educational planning (immediate and long-term) Early recognition for inborn errors of metabolism, educ. intervention,

孩子因遺傳測試所得到的利益 早期診斷和識別可能會影響長期結果 根據需要，盡快找到合適的醫療和非醫療的療法 在併發症及相關障礙症狀出現以前就進行篩選 避免不必要的測試和評估 幫助短期和長期的教育計劃 Early recognition for inborn errors of metabolism, educ. intervention,

Benefits of the genetic evaluation for the parents Provide information about the cause and treatment and dispel misinformation. Relieve the guilt that some parents feel when having a child with developmental or physical disability Offers support, guidance and an outline of what to expect Can reduce the sense of helplessness when the diagnosis/prognosis is uncertain

父母因遺傳測試所得到的利益 提供病因和療法，消除誤報 減輕一些父母因為孩子有障礙所感到的內疚 提供支持，指導和你能預期的大綱 可以減少在診斷/預後不確定的情況下所產生後的無助感

Benefits of genetic evaluation for parents Enables referrals to appropriate medical and social service agencies and support groups Provides accurate reproductive options, carrier testing for parents and other relatives, prenatal /preimplantation genetic diagnosis Help with decisions about long-term care planning (insurance, education, medical, contraception, adult living)   Learn about opportunities for education, advocacy and research Parent of child with autism, seizures, DD, Phelan McDermid 22q13 microdel syndrome

父母因遺傳測試所得到的利益 轉介到適當的醫療和社會服務機構及支持團體 提供準確的生育選項，父母和其他親屬是否有病原，產前/胚胎植入前遺傳學診斷 幫助有關長期護理計劃（保險，教育，醫療，避孕，成人生活）的決定 得知教育，倡導和研究機會 Parent of child with autism, seizures, DD, Phelan McDermid 22q13 microdel syndrome

How to find genetic services Texas Dept. of State Health Services: www.dshs.state.tx.us/genetics/provider.shtm American College of Medical Genetics www.acmg.net Find genetic services Families can self-refer depending on insurance, but usually referred by physician. Can be referred by health care provider or self-referred

如何找到遺傳諮詢服務 Texas Dept. of State Health Services: www.dshs.state.tx.us/genetics/provider.shtm American College of Medical Genetics www.acmg.net Find genetic services Families can self-refer depending on insurance, but usually referred by physician. Can be referred by health care provider or self-referred

GINA Genetic Information Nondiscrimination Act passed in 2008. Prohibits discrimination in health coverage and employment based on genetic information Does not extend to life, disability or long-term care insurance http://www.genome.gov/24519851

GINA 2008年獲得通過的遺傳信息無歧視法案 禁止以遺傳為基礎引起在醫療保險和就業上的歧視 法案沒有延伸到生活中，殘疾或長期護理保險 http://www.genome.gov/24519851

Web Resources Genetic & Rare Diseases Information Center http://rarediseases.info.nih.gov/GARD Texas Department of State Health Services: http://www.dshs.state.tx.us/genetics/pedi-genetics.shtm Chromosome Disorder Outreach: www.chromodisorder.org Unique http://www.rarechromo.org

Research Families often want to know of current studies about their child’s genetic condition. Clinical Trials- a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. www.clinicaltrials.gov

研究 家庭常常想知道和自己孩子的遺傳性疾病有關的最新研究。 臨床試驗 - 在世界各地進行的人類受試者的公開和私人支持的臨床研究註冊表和結果數據庫。 www.clinicaltrials.gov

You are not alone Many parent support organizations! Genetic Alliance- national www.geneticalliance.org Texas Parent 2 Parent- state www.txp2p.org Family to Family- Houston www.familytofamilynetwork.org Families CAN- Houston http://www.las.uh.edu/PEP/families-can.aspx