Do it yourself cancer gene testing raises concerns
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《英国医生杂志》
A US company is offering genetic tests for susceptibility to breast and ovarian cancer direct to consumers. Representatives of DNA Direct insist that the counselling and testing that they provide is identical with what a woman would get at a cancer centre—with the exception that she receives test results and counselling by telephone and online, rather than in person. But critics say that the approach puts women and their doctors at risk of not getting the whole story.
The company offers a single point mutation test for $586 (￡306; 439); a screen for three mutations found among women of Ashkenazi Jewish ancestry for $627; and complete sequencing for $3312.
"What we are offering at DNA Direct is basically what would be offered at any healthcare provider as standard care for individuals with a personal history or a medical history that would be indicative of hereditary breast cancer,"Katherine Rauen, the company's consulting medical director, told the BMJ.
Some doctors argue that genetic test results, which can be analysed using autoradiograms (above), contain so many subtleties that they cannot be handled adequately by telephone or via the internet
Credit: TEK IMAGES/SPL
A woman orders the test online, after which she gets a call from a genetic counsellor who takes a medical and family history. The woman receives a test kit in the mail that she takes to a local laboratory. Results take about three weeks and are given over the telephone by a certified genetic counsellor. The woman also receives a personal report and referrals to community resources.
The company also sends consumers a letter with tips on talking about the results with their doctor and a letter that they can print out for their doctor explaining the results and their implications.
"We like to think that we are part of the team," said Dr Rauen, a paediatrician and medical geneticist. Dr Rauen says that DNA Direct's services are appropriate for people without access to a cancer centre or to a doctor with adequate knowledge of genetic testing. And for women who dislike going to the doctor, Dr Rauen added, the test can be a first step.
But one medical geneticist fears that it is a step in the wrong direction. "I think it's poor patient care," Georgia Wiesner, the director of the Center for Human Genetics, run jointly by Case Western Reserve University and University Hospitals of Cleveland, told the BMJ.
Dr Wiesner argues that the process of getting tested for breast cancer susceptibility and working out what to do with the results contains so many subtleties and requires such personalisation that it cannot be handled adequately by telephone or via the internet.
Telephone counselling cannot take the place of having a genetic counsellor on hand, in person, agrees Wendy Mason, who manages the helpline for the Susan G Komen Foundation, a US breast cancer charity.(Anne Harding)
The company offers a single point mutation test for $586 (￡306; 439); a screen for three mutations found among women of Ashkenazi Jewish ancestry for $627; and complete sequencing for $3312.
"What we are offering at DNA Direct is basically what would be offered at any healthcare provider as standard care for individuals with a personal history or a medical history that would be indicative of hereditary breast cancer,"Katherine Rauen, the company's consulting medical director, told the BMJ.
Some doctors argue that genetic test results, which can be analysed using autoradiograms (above), contain so many subtleties that they cannot be handled adequately by telephone or via the internet
Credit: TEK IMAGES/SPL
A woman orders the test online, after which she gets a call from a genetic counsellor who takes a medical and family history. The woman receives a test kit in the mail that she takes to a local laboratory. Results take about three weeks and are given over the telephone by a certified genetic counsellor. The woman also receives a personal report and referrals to community resources.
The company also sends consumers a letter with tips on talking about the results with their doctor and a letter that they can print out for their doctor explaining the results and their implications.
"We like to think that we are part of the team," said Dr Rauen, a paediatrician and medical geneticist. Dr Rauen says that DNA Direct's services are appropriate for people without access to a cancer centre or to a doctor with adequate knowledge of genetic testing. And for women who dislike going to the doctor, Dr Rauen added, the test can be a first step.
But one medical geneticist fears that it is a step in the wrong direction. "I think it's poor patient care," Georgia Wiesner, the director of the Center for Human Genetics, run jointly by Case Western Reserve University and University Hospitals of Cleveland, told the BMJ.
Dr Wiesner argues that the process of getting tested for breast cancer susceptibility and working out what to do with the results contains so many subtleties and requires such personalisation that it cannot be handled adequately by telephone or via the internet.
Telephone counselling cannot take the place of having a genetic counsellor on hand, in person, agrees Wendy Mason, who manages the helpline for the Susan G Komen Foundation, a US breast cancer charity.(Anne Harding)