Huge US Study Starts Sharing Gene Findings with Volunteers

December 18, 2022











ジョシュ・デニー博士は、NIHの "All of Us "と呼ばれる研究を率いています。彼は、「そのばらつきの原動力は何か?」と問いかけます。そして、「その発見に対して、彼らがどのように行動を変えるのか、それを見ることができるでしょう 」と付け加えています。


All of Us研究は、医療の格差をなくし、今日の画一的な医療を終わらせるための、a never-before-seenこれまでにない取り組みです。研究者たちは、異なるグループの100万人の人々を少なくとも10年間追跡調査することを目標としています。その目的は、ある子供は病気になるが別の子供はならない、ある患者の治療が別の患者では失敗する、といった複雑な理由の組み合わせをよりよく理解することです。




FILE - Tools used for DNA testing are pictured in a lab at the Oklahoma State Bureau of Investigation in Edmond, Oklahoma on August 1, 2014. (AP Photo/Sue Ogrocki/File)
FILE - Tools used for DNA testing are pictured in a lab at the Oklahoma State Bureau of Investigation in Edmond, Oklahoma on August 1, 2014. (AP Photo/Sue Ogrocki/File)
FILE - 2014年8月1日、オクラホマ州エドモンドにあるオクラホマ州捜査局の研究室で撮影されたDNA検査に使用される道具。(AP Photo/Sue Ogrocki/File)

従来、こうした研究は一方通行のようなものです–科学者はボランティアから多くを学び、見返りとして個人情報をほとんど得ることができないのです。しかし、異例なことに、All of Usのボランティアは、研究が終了するずっと前に、健康に関連する遺伝子の知見を知りたいかどうかを決めることができるのです。


レイチェル・ピーターソンさんはNIHの職員で、All of Usにボランティアとして参加した後、最近このプロジェクトの主要メンバーになりました。All of Usの遺伝カウンセラーが彼女に、BRCA-2という遺伝子のために乳癌と ovarian cancer卵巣癌のリスクが高いことを伝えました。










ベイラー医科大学のエリック・ヴェナー氏は遺伝学の専門家です。彼によれば、異なる変異型が他の家系に影響を与える可能性があるとのことです。彼のチームは、All of Usのデータを研究して、どの違いがどの集団に最も重要であるかを調べています。






Huge US Study Starts Sharing Gene Findings with Volunteers

FILE - People stand by the All of Us Mobile Education and Enrollment Center at the Community Health Center on State Street in Meriden, Conn., May 13, 2019. (Dave Zajac/Record-Journal via AP, file)

DNA is the main molecule that carries genetic information in the cells of living things. More than 155,000 Americans who shared their DNA for science are about to learn something in return: Do they have any worrisome genes?

It is part of a very large study to see how people’s genetics, environments, and behavior combine to govern their overall health.

The National Institutes of Health (NIH) said recently it is now starting to tell those in the study about some early findings. Like if they carry variants that can cause any of 59 genetically passed down diseases or cause medication problems.

Because everyone with the same gene will not have the same health outcome, sharing those results may mean new discoveries.

Dr. Josh Denny heads the NIH’s study, called “All of Us.” He asked, “What are the drivers in that variability?” And he added, “The way they change their behaviors in response to the findings, we’ll be able to look at that.”

The All of Us study is a never-before-seen effort to reduce differences in healthcare and end today’s one-size fits all care. Researchers aim to follow 1 million people from different groups for at least ten years. Their goal is to better understand the complex combinations of reasons that decide why one child gets sick and not another, or why a cure for one patient fails in another.

Volunteers share DNA samples, medical records and health history. About 560,000 have signed up so far. And more importantly, nearly half are from racial and ethnic groups historically left out of medical research.

FILE - Tools used for DNA testing are pictured in a lab at the Oklahoma State Bureau of Investigation in Edmond, Oklahoma on August 1, 2014. (AP Photo/Sue Ogrocki/File)
FILE - Tools used for DNA testing are pictured in a lab at the Oklahoma State Bureau of Investigation in Edmond, Oklahoma on August 1, 2014. (AP Photo/Sue Ogrocki/File)

Traditionally, such studies are like a one-way street – scientists learn a lot from volunteers who get little personal information in return. But in an unusual move, All of Us volunteers get to decide if they want to learn health-related genetic findings, long before the study’s finished.

Rachel Peterson is an NIH employee who volunteered for All of Us before recently becoming a leading member of the project. An All of Us genetic counselor informed her that she was at increased risk of breast and ovarian cancer because of a gene named BRCA-2.

Peterson did not know that was a risk for her family. She plans to discuss health treatments with her doctor, such as increased breast cancer screening. She said, “I kind of shudder to think about what could happen if I hadn’t known this.”

Denny estimated two to three percent of study volunteers will learn they have a well-known genetic variant that can cause some cancers, heart conditions, or other health problems. Many more will have genetic variants that affect how their body processes some medicines.

For now, volunteers will only be given findings they can do something about, such as seeking earlier testing, or changing medications. They will be offered free testing, genetic counseling, and help with sharing the information with their doctors and family members.

But there is a lot more to learn. For example, many of the disease-linked genes were discovered by studying people of European ancestry.

Eric Venner of Baylor College of Medicine is a genetics expert. He said different variants may affect other ancestries. And his team is studying the data from All of Us to see which differences matter most to which populations.

Denny commented on the power of being able to talk to volunteers who they could work with for tens of years. If new findings affect study volunteers, “we’re going to keep things up to date,” Denny said.



Words in This Story


variant – n. something that is different in some way from others of the same kind

response – n. something that is done as a reaction to something else

sample – n. a small amount of something that gives you information about the thing it was taken from

counselor – n. a person who provides advice as a job

ovary – n. one of usually two organs in women and female animals that produce eggs and female hormones

shudder – v. to shake because of fear or cold