感謝您的答案，但這不是我的問題：次要發現的利弊。

With the advent of exome and genome testing, laboratories began to identify changes in genes (variants) unrelated to the primary reason for genetic testing. These findings became known as “secondary findings.” There has been debate among providers since the American College of Medical Genetics and Genomics (ACMG) published and then revised their recommendations for a minimum list of genes where secondary findings should be reported. Included are genes that may identify a predisposition to hereditary cancers, cardiac conditions, and malignant hyperthermia, a condition associated with complications with the use of certain types of anesthesia.

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Ethical concerns surrounding secondary findings include presymptomatic testing of minors, potential insurance discrimination, and the possibility of emotional harm. The European Society of Human Genetics (ESHG) issued recommendations suggesting the use of gene panels to avoid the possible identification of secondary findings, and the Canadian College of Medical Geneticists (CCMG) recommended providers utilize a thoughtful approach to ordering testing with secondary findings.

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Results from secondary findings can provide many benefits to patients and families. Studies have shown that in unselected populations, 1% to 2% of people are found to have pathogenic variants in genes for which they may have no family history. A discovery of a pathogenic variant, for example in RYR1 or CACNA1S, can lead to life-saving measures for individuals and with malignant hyperthermia. A mother of a child with intellectual disability may not follow general cancer breast screening guidelines as she is stressed with her child’s healthcare and therapies. Finding out her son has a BRCA1 pathogenic variant can lead to her testing and/or following guidelines that can reduce her risk of cancer and potentially even save her life. It can also help her son when he gets older pursue increased surveillance.

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In contrast, the information secondary findings can provide may not be wanted by the family or the patient. Parents may not want for their infant daughter to know she has a BRCA pathogenic mutation or know that their young son has a susceptibility to colon cancer later in life. A parent of a child in the NICU may not have the emotional capability at that time to process additional results in addition to dealing with a critically ill infant. In these situations, patients, families, and providers may decide to opt-out of receiving secondary findings with exome testing. For secondary findings with the Quest Exome with CNV, providers must consent and explain potential benefits, results, and limitations to their patients in order to have secondary findings performed (http://www.questexome.com/).

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Increasingly, providers are seeking out genetic testing options that help them to diagnose and care for patients without having to address secondary findings. NewbornDx, a test of over 1,700 genes tailored to conditions in the NICU, has been specifically developed with the concerns like identification of secondary findings in newborns in mind. It can provide a written result in 3-7 days, at a lower cost than some alternative testing options that may identify secondary findings. (https://www.athenadiagnostics.com/newborndx). This test circumvents the psychological and logistical issues with informed consent for secondary findings in the NICU.

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Consideration of genetic testing with secondary findings has many ethical, medical, and psychological implications for patients and their families. To talk to a genetic counselor to learn more about secondary findings and how they may impact testing and your patients, please contact Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

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隨著外顯子組和基因組測試的出現，實驗室開始確定與基因檢測主要原因無關的基因（變體）的變化。這些發現被稱為“次要發現”。自美國醫學遺傳與基因組學院（ACMG）發表以來，提供者之間存在爭議，然後修改了他們的建議，以報告應報告次要發現的最低基因清單。其中包括可能鑒定出對遺傳性癌症，心髒疾病和惡性高溫的易感性的基因，這種疾病與並發症與使用某些類型的麻醉有關。

涉及次要發現的道德問題包括對未成年人的預症狀測試，潛在的保險歧視以及情緒傷害的可能性。歐洲人類遺傳學學會（ESHG）提出了建議，建議使用基因麵板來避免可能識別次要發現，加拿大醫學遺傳學家學院（CCMG）建議提供者使用二次發現的周到的訂購方法來進行訂購測試。

次要發現的結果可以為患者和家庭帶來許多好處。研究表明，在未選擇的人群中，發現1％至2％的人在基因中具有致病性變異，他們可能沒有家族史。病原變體的發現，例如在RYR1或CACNA1中，可以導致個人和惡性高溫的挽救生命措施。智力殘疾兒童的母親可能不會遵循一般的癌症乳房篩查指南，因為她對孩子的醫療保健和療法感到壓力。發現她的兒子患有BRCA1致病性變體可能會導致她的測試和/或遵循可以降低癌症風險甚至可能挽救生命的準則。當她的兒子年紀大的兒子追求增加監視時，這也可以幫助您。

相比之下，次要發現可以提供的信息可能不受家庭或患者的要求。父母可能不想讓嬰兒女兒知道她患有BRCA致病性突變，或者知道他們的小兒子後來患有結腸癌。除了處理重症患者外，NICU的孩子的父母當時可能沒有情感能力來處理其他結果。在這些情況下，患者，家庭和提供者可能決定退出接受外顯子測試的次要發現。對於使用CNV的Quest Exome的次要發現，提供者必須同意並解釋對患者的潛在益處，結果和局限性，以便進行次要發現（http://www.questexome.com/）。

提供者越來越多地尋求基因測試方案，可以幫助他們診斷和護理患者，而無需解決次要發現。Newborndx是針對NICU量身定製的1,700多種基因的測試，專門針對新生兒中次要發現的擔憂。它可以在3-7天內提供書麵結果，其成本低於某些可能識別次要發現的替代測試選項。（（https://www.athenadiagnostics.com/newborndx）。這項測試通過知情同意書來規避心理和後勤問題，以獲得NICU中的次要發現。

對二次發現的基因檢測的考慮對患者及其家人具有許多道德，醫學和心理影響。要與遺傳輔導員交談，以了解有關次要發現以及它們如何影響測試和您的患者的更多信息，請致電1.866.gene.info（1.866.436.3463）與Quest Genomics客戶服務聯係。