New gene-based tests that map out a person's entire genetic code can help explain why a child has birth defects or developmental delays, but they are also exposing some dark family secrets.

Researchers at Baylor College of Medicine in Houston recently started using such tests and have uncovered several cases of likely incest, says Dr. Arthur Beaudet, chairman of molecular and human genetics at Baylor.

The tests, called single nucleotide polymorphism-based arrays, allow doctors to scan a child's genome for extra or missing copies of genes that could explain their disability.

But they can also show large, identical chunks of DNA that a child might have inherited from two closely related relatives, such as a father and daughter, raising social and legal issues that institutions and the scientific community must address.

"The concern mainly stems from the possibility of children being sexually abused in the home, most often girls between 12 and 16 years of age," he said.

Disabilities are frequent in children born of incestuous liaisons. In the past, doctors may have suspected a child was the product of incest, Beaudet said. "Now we have a routine test that we do in children with disabilities that makes it obvious."

U.S. doctors are legally and ethically bound to disclose cases of suspected child abuse to authorities.

'A LITTLE AGONY'

Nancy Spinner, a professor of pathology at the University of Pennsylvania School of Medicine, said her team had encountered two cases of incest since it began using SNP-based arrays from gene sequencing company Illumina Inc. in May 2008.

"In both cases, you see it and it causes you a little agony because you realize it could be a big problem. But when we contacted the physician to learn more about the case, in both cases it was known," Spinner said, nothing that her lab had yet to see a case in which the incest was not known by the referring physician, but she knows it could happen.

Beaudet and colleagues are calling on professional groups to establish guidelines to help in cases of "incidental finding," of which Spinner says are likely to occur more frequently as scientists begin to explore the power of genomic technology.

Ten years after the first sequencing of the Human Genome, gene tests are finally coming of age as sequencing technology becomes more affordable.

"We recognize we will make observations that were not necessarily what we were looking for." But Spinner says it is important information to have.

"Putting your head in the sand does not seem an answer to me, but it does mean we have a lot of work to do to be sure we don't do any harm with these technologies."

新的基因檢測譜出人類的完整基因碼,可以幫助解釋為何有些孩子會出現先天缺陷或發展遲緩,但卻也揭露出一些不為人知的家庭黑暗面。

貝勒醫學院分子與人類基因主席亞瑟博德特醫師表示,休士頓貝勒醫學院的研究員最近開始採用這種新的基因檢測,並發現了幾例可能是亂倫的案例。

稱為單一核甘酸多態性序列的檢測讓醫師能夠藉由掃描孩童的基因組,找出多餘或缺乏的基因,以解釋他們身上出現的缺陷。

然而,這也足以顯示出缺陷兒童大半或一模一樣的 DNA 可能是遺傳自血緣相近的兩位親人,像是父親與女兒,引發了各機構與科學界必須設法解決的社會與法律議題。

博德特表示:「主要擔憂是來自孩童可能在家中遭性侵,受害者則多為年齡介於十二至十六歲的女孩。」

亂倫產下的孩子常帶有缺陷,博德特指出,醫師以前可能會懷疑某個孩子是亂倫產物,不過「現在我們會對有缺陷的孩子做固定檢測,使得這種狀況更為明顯」。

美國醫師在道德與法律上都必須向當局回報可疑的虐童案例。

「有點苦惱」

賓州大學醫學院病理學教授南西史賓納表示,她的團隊自二○○八年五月開始採用基因定序公司 Illumina Inc. 的單一核甘酸多態性序列檢測方式後,已經碰到兩起亂倫案例。

史賓納指出:「發現這兩起案例令人感到苦惱,因為你了解到這可能是個大問題。但當我們聯絡醫師欲詢問更多資訊時得知,這兩起都是已知案例。」史賓納的實驗室即將觀察的皆為轉介醫師已知的案例,不過她知道未知案例會出現。

博德特與同事呼籲專業團體建立指導方針,為「意外發現」案例提供協助。史賓納則認為當科學家開始探索基因組科技的力量,這些案例會更容易曝光。

在人類基因組首次被定序的十年後,基因檢測終於在定序技術價格愈來愈平民化後,為人所重視。

史賓納提到:「我們意識到未來將觀察到的資訊,未必是我們所要尋求的,」但這些卻是重要的資訊。

「不願面對問題對我來說似乎並非解決之道,而是意味著我們要付出很多努力,確保在採用這些技術時,不會帶來任何傷害。」

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