Genetic Testing in France

By Tamar G. McLachlan

Well we visited The Geneticist Today; a Professor Labrune, at the Hospital Beclere (somewhere on the outskirts of Paris). Actually, it is in the direction of Versailles and my husband commented on how exciting it is to be in a place where we could hop over to Versailles after a doctor's visit. The fact that I was a.) freezing b.) nauseous c.) trying not to pass out from the bus ride kept me from agreeing enthusiastically.

We secured this appointment in the complex yet sincere way that the French do everything. After many emails and several intense consults with friends and family, I was convinced (not to mention a bit panicked) that it was essential that I be tested for a variety of genetic diseases (including the Jewish ones). Apparently, even though neither my husband nor I have any history of genetic diseases of any sort in our families, this testing is common in the USA and so we were advised to pursue it.

In my normal pre-pregnancy state I tend a TAD towards the anxious side. In my pregnant state with hormones running rampant I am pretty close to hysteria much of the time. I searched the internet, examined pregnancy books and grilled friends and family doctors at home about the dangers of genetic illnesses. Visions of deformed babies and childhood deaths haunted me. Meanwhile, my Parisian GYN looked at me blankly when I mentioned that I must be tested for a variety of diseases, a.s.a.p. She had no idea what I was asking.

True to French form, after my doc greeted my anxieties with a look of curiosity and confusion, she set off on a search through the hospital to find the answers to my questions. After a forty-five minute tour of the hospital, consulting with a variety of physicians, she returned to her office (where I was not-so-patiently waiting) to tell me that this hospital does not in fact perform such screening (what?! This is common practice in the USA!)

In fact, since it is a specialized concern, she would refer me to a genetics specialist who would give me an individual consult.

Frustrated that I couldn't just have the blood test done and over with then and there (I abhor blood tests), I grudgingly took the information and waited for my appointment. This was one of my many lessons in the French health system, which is related to the French culture in general. The French, as a whole, feel entitled to good care. They feel it is their right and their privilege to seek professional advice and help when and where they want it. Because of socialized medicine, there is no hesitancy to refer to specialists. Likewise, there is no hurry to pack many patients into a short time frame, scheduling appointments 15 minutes apart as in the USA.

In two months, I have visited my GYN four times and only once has it been for an actual exam. The others were all consults or opportunities for me to address concerns and get information. Two of these consults included my husband. When I call my doctor, I actually reach her directly on the phone. If I have anything other than a brief question, she schedules an appointment to talk in person. Sometimes these appointments last up to an hour. My private insurance (since I don't qualify for social security) covers 90% of all my care.

Therefore the entire mentality is different. French people often seek several consultations from several doctors to get different opinions. They are not restricted by primary care referrals and 15 minute sessions. Patients hold onto their own medical records, lab reports and x-rays.

So my husband and I were sent to see Professor Labrune, the Genetics specialist. We had an appointment schedule for 9:30 am and I was so anxious about finding the office and arriving on time that I couldn't sleep the night before. Clay calmly planned out our subway route. The next morning we left before dawn (the sun doesn't rise until 8:30 a.m. --a real downer in the early morning) and shivered our way to the metro. One metro and one extremely nauseating bus ride later, we found ourselves in front of what looked like a warehouse. Armed with only the Professor's name (and no other information), we wandered around the chain link fence, looking for the appropriate entrance. We finally found a sign directing us to Prof Labrune Porte 33. Hesitantly, we entered the "porte', which was actually a delivery entrance. Following a bakery delivery truck in through the door, we found ourselves in a garage, wondering where the heck the doctor's office was. We wandered our way through a door (having asked a confused delivery man where to go), which led to a maze of white hallways. By this time, I was anxious, nauseous and desperately had to use the bathroom, which luckily I found easily. No matter that it was an employee only entrance; this was a desperate situation (besides, I figured "hey I'm a pregnant lady! Back off!"), I could hear my husband asking for directions in the hallway. It turns out that we had come in through the kitchen entrance and were now in the back of the hospital cafeteria. Clearly not where Prof Labrune must be waiting.

We stumbled our way through an ER section, past a row of empty gurneys and up a flight of stairs leading to the information desk. The very friendly woman behind the desk directed us around the corner to pediatrics, where we sat, among an assortment of toddlers and parents, waiting to be seen. My husband beamed at the darling children; I tried to keep from throwing up or passing out.

"Look" I turned to him, "I'm not big on blood tests or hospitals and my French is headed out the window so if you could be the proactive team member here, that would be great. I mean, how the hell do I ask about being a carrier for Taysachs disease in French?"

I was concerned that I would be confronted with a grumpy Professor, who was wondering why we were wasting his time. I was worried that I would have to convince him to authorize the screenings for us (because in the USA, everything is about getting "authorization") and, that I would have to discuss genetics, not my forte… in French, also not my forte.

I couldn't have been more off base. The Professor was a charming, gentle, quiet and patient man who first took our family history. Then he patiently explained the various diseases we were concerned about (in too much detail), their origins (not really necessary) and the percentage of risk. I couldn't believe that we were having this conversation in French! And I actually understood it! Not that I "understood" it. I understood the words. And the context. I was just reveling in my linguistic breakthrough when he pulled out a piece of paper and started to diagram the cell mutation related to one of the diseases. (At this point I had to admit defeat. Not due to language barriers but due to my own science learning disability. Once someone starts talking cells and DNA, I start to lose it). Not wanting to be rude (he was enamored with his description of some particular cell growth), I steered the conversation back to our family trees and what tests would be appropriate for us.

This led to the obligatory piece of any professional consult in France: the paperwork. In order to be tested we must solemnly sign the agreement to show that we fully understood the solemn oath of his professional boundaries (confidentiality, professional courtesy, professional boundaries and a myriad of other issues which seemed to pertain mainly to his limitations as a mortal and not as an agent of God). Then there would be the second set of papers authorizing release of this information to my doctor, which could only be sanctioned with my personal authority. Otherwise, our test results would remain in the secrecy of Professor Labrune. He took this very seriously. An oath of privacy.

After we satisfactorily signed and sanctioned the paperwork, we were led next door to the lab technician to have our blood drawn. Just the thought of this process made me queasy, but my husband, who is quite an experienced blood donor, asserted that this was one of the most professional outfits he had ever seen. Not only were the technician (and her assistant) extremely friendly and caring, they treated us like dear friends, expressing extreme concern over my obvious distaste for the process. Offers of juice, attempts to make jokes, were all lost on me as I did my best to disassociate from the process. They even recommended an anesthetic patch that can be purchased in the pharmacy, to numb the area to be pricked.

I stumbled out of the technician's office (desperate to get away from any sign of B-L-O-O-D) and we returned to the information desk to settle our bill. Having been quoted a fee of $1000 to have this exact procedure (consult and tests) done in Boston, we were shocked to be asked to pay a total of 32.10 euros. I must have heard wrong. She must have meant 300 euros and in my light -headed state I was getting the numbers wrong. Nope. 23 euros for the consult with the Professor and 4 euros for our tests, plus a couple of euros miscellaneous. "You do have insurance that will reimburse you?" she asked me with a concerned look.

I am overwhelmed by the quality of service, professionalism and State of the Art care we have experienced here. I'm sure some of it is luck. But boy have we been lucky.

Flu H1N1 2009 - Measures in school settings

GENEVA -- WHO is today issuing advice on measures that can be undertaken in schools to reduce the impact of the H1N1 influenza pandemic. Recommendations draw on recent experiences in several countries as well as studies of the health, economic, and social consequences of school closures. These studies were undertaken by members of a WHO informal network for mathematical modelling of the pandemic.

Experience to date has demonstrated the role of schools in amplifying transmission of the pandemic virus, both within schools and into the wider community. While outbreaks in schools are clearly an important dimension of the current pandemic, no single measure can stop or limit transmission in schools, which provide multiple opportunities for spread of the virus.

WHO recommends the use of a range of measures that can be adapted to the local epidemiological situation, available resources, and the social role played by many schools. National and local authorities are in the best position to make decisions about these measures and how they should be adapted and implemented.

WHO continues to recommend that students, teachers, and other staff who feel unwell should stay home. Plans should be in place, and space made available, to isolate students and staff who become ill while at school.

Schools should promote hand hygiene and respiratory etiquette and be stocked with appropriate supplies. Proper cleaning and ventilation and measures to reduce crowding are also advised.

School closures and class suspensions

Decisions about if and when schools should be closed during the pandemic are complex and highly context-specific. WHO cannot provide specific recommendations for or against school closure that are applicable to all settings. However, some general guidance comes from recent experience in several countries in both the northern and southern hemispheres, mathematical modelling, and experience during seasonal epidemics of influenza.

School closure can operate as a proactive measure, aimed at reducing transmission in the school and spread into the wider community. School closure can also be a reactive measure, when schools close or classes are suspended because high levels of absenteeism among students and staff make it impractical to continue classes.

The main health benefit of proactive school closure comes from slowing down the spread of an outbreak within a given area and thus flattening the peak of infections. This benefit becomes especially important when the number of people requiring medical care at the peak of the pandemic threatens to saturate or overwhelm health care capacity. By slowing the speed of spread, school closure can also buy some time as countries intensify preparedness measures or build up supplies of vaccines, antiviral drugs, and other interventions.

The timing of school closure is critically important. Modelling studies suggest that school closure has its greatest benefits when schools are closed very early in an outbreak, ideally before 1% of the population falls ill. Under ideal conditions, school closure can reduce the demand for health care by an estimated 30–50% at the peak of the pandemic. However, if schools close too late in the course of a community-wide outbreak, the resulting reduction in transmission is likely to be very limited.

Policies for school closure need to include measures that limit contact among students when not in school. If students congregate in a setting other than a school, they will continue to spread the virus, and the benefits of school closure will be greatly reduced, if not negated.

Economic and social costs

When making decisions, health officials and school authorities need to be aware of economic and social costs that can be disproportionately high when viewed against these potential benefits.

The main economic cost arises from absenteeism of working parents or guardians who have to stay home to take care of their children. Studies estimate that school closures can lead to the absence of 16% of the workforce, in addition to normal levels of absenteeism and absenteeism due to illness. Such estimates will, however, vary considerably across countries depending on several factors, including the structure of the workforce.

Paradoxically, while school closure can reduce the peak demand on health care systems, it can also disrupt the provision of essential health care, as many doctors and nurses are parents of school-age children.

Decisions also need to consider social welfare issues. Children’s health and well-being can be compromised if highly beneficial school-based social programmes, such as the provision of meals, are interrupted or if young children are left at home without supervision.

Genetic testing for breast or ovarian cancer risk may be greatly underutilized

Although a test for gene mutations known to significantly increase the risk of hereditary breast or ovarian cancer has been available for more than a decade, a new study finds that few women with family histories of these cancers are even discussing genetic testing with their physicians or other health care providers.

In a report in theJournal of General Internal Medicine, which has been released online, investigators from the Massachusetts General Hospital (MGH) Institute of Health Policy and Dana-Farber Cancer Institute note that their findings illustrate the challenges of bringing genetic information into real-world clinical practice. "Testing for BRCA1 and 2 mutations has been around a long time and should be a good indicator of whether genetic testing is making its way into regular medical practice," says Douglas Levy, PhD, of the MGH Institute for Health Policy, the study's lead author. "When a well-established genetic test is not being incorporated into clinical practice when appropriate, we are a long way from meeting the promise of personalized, genetically-tailored medical care.

"Most women's lifetime risk of breast cancer is about 13 percent, and the risk for ovarian cancer is less than 2 percent. But women with mutations in the BRCA1 or BRCA2 genes may be 3 to 7 times more likely to develop breast cancer and 9 to 30 times more likely to develop ovarian cancer than women with unaltered forms of the genes. Several organizations have issued clinical guidelines designating who should be screened for BRCA1/2 mutations, and while there have been discrepancies among the guidelines, all of them include a history of breast or ovarian cancer in close relatives among the criteria indicating elevated risk. The authors note that most U.S. health insurers cover at least part of the cost of BRCA1/2 testing for at-risk women.

Flu symptoms self-assessment: Do you have seasonal or swine flu (H1N1)?

Influenza is a viral infection that attacks your respiratory system, including your nose, throat, bronchial tubes and lungs.

If you're generally healthy and you catch influenza — commonly called the flu — you're likely to feel rotten for a few days, but you probably won't develop complications or need hospital care. If you have a weakened immune system or chronic illness, though, influenza can be fatal.

For those at high risk of influenza, the first line of defense is an annual flu shot. This year, in addition to a regular flu shot, you may need a different flu shot for protection against novel H1N1 swine flu, a new type of influenza identified earlier this year. The first doses of swine flu vaccine will be available later this fall, after seasonal flu immunization begins.

Initially, the flu may seem like a common cold with a runny nose, sneezing and sore throat. But colds usually develop slowly, whereas the flu tends to come on suddenly. And although a cold can be a nuisance, you usually feel much worse with the flu.

Common signs and symptoms of the flu include:

• Fever over 101 F (38 C) in adults, and often as high as 103 to 105 F (39.5 C to 40.5 C) in children
• Chills and sweats
• Headache
• Dry cough
• Muscular aches and pains, especially in your back, arms and legs
• Fatigue and weakness
• Nasal congestion
• Loss of appetite
• Diarrhea and vomiting in children

When to see a doctor
If you have flu symptoms and are at risk of complications, see your doctor right away. Taking antiviral drugs within the first 48 hours after you first notice symptoms may reduce the length of your illness by a day or two and may help prevent more serious problems. Seek immediate medical care if you have signs and symptoms of pneumonia. These include a severe cough that brings up phlegm, a high fever and a sharp pain when you breathe deeply. If you have bacterial pneumonia, you'll need treatment with antibiotics.

Flu viruses travel through the air in droplets when someone with the infection coughs, sneezes or talks. You can inhale the droplets directly, or you can pick up the germs from an object, such as a telephone or computer keyboard, and then transfer them to your eyes, nose or mouth.

The flu is caused by three types (strains) of viruses — influenza A, B and C. Type A can be responsible for the deadly influenza pandemics (worldwide epidemics) that strike every 10 to 40 years. Type B can lead to smaller, more localized outbreaks. And either types A or B can cause the flu that circulates almost every winter. Type C has never been connected with a large epidemic.

Type C is a fairly stable virus, but types A and B are constantly changing, with new strains appearing regularly. Once you've had the flu, you develop antibodies to the strain that caused it, but those antibodies won't protect you from new strains. That's why doctors recommend getting a flu shot every year.

You're at increased risk of influenza or its complications if you:

• Are an infant or young child
• Are over age 50
• Are a resident of a nursing home or other long term care facility
• Have a chronic disorder, such as diabetes or heart, kidney or lung disease
• Have a weakened immune system, such as from medications or HIV infection
• Will be pregnant during flu season
• Work in a health care facility where you're more likely to be exposed to the flu virus
• Are in regular, close contact with infants or young children

Children on long-term aspirin therapy also may be at greater risk.

The flu vaccine is safe for children 6 months and older. If your child isn't at risk of the flu but lives with someone who is, you still may want to have your child vaccinated. That way, your child is less likely to infect others. The more people immunized, the less likely it is that the flu will spread through a community.

Get Your Entire Genome From Complete Genomics For $5000

It’s getting progressively cheaper to sequence your entire genome. Earlier in June, Illuminaannounced it would provide sequencing for close to $50k, half of their original price. Not to be outdone, Complete Genomics just released on Monday that it had gathered $45 million dollars in funding. The Silicon Valley based company is planning to use that money to further develop their streamline sequencing operations so that they can offer a complete genome for just $5000 by next year. CG’s goal is to finish 10,000 sequences by years end 2010. Even though that’s later than we had hoped, it’s still a whole lot of DNA and at the cheapest price for a whole genome seen so far. The question is, can they really pull it off?

We’ve been looking for a company, any company really, to break the $1000 price mark for a complete genome sequencing sometime in the next few years. That’s about the point where retail sales of the service will explode. With their exponentially decreasing price tag, Complete Genomics might be on that path. However, we know of at least one company that is trying to reach that goal by the end of this year. Stay tuned for that story in the next few weeks.

If you’ve never heard of Complete Genomics, read our first and second story to catch up. Basically they use a common form of short read sequencing and throw in a ton of computer power to sequence a human genome. Interest in personal genomics is escalating as genetic links to diseases are discovered. 23andMe already offers some testing for such diseases and is hoping to gather samples for further clinical trials. By providing the entire genome for perusal on the cheap, CG could make it economically feasible to expand that research into many more illnesses. Already, we’ve shown you how some facilities are erroneously promising to predict a child’s aptitudebased on genetic sampling. Perhaps with the cheap sequencing CG could provide, scientific research will match pace with the growing demand for such testing.

Daniel MacArthur of Genetic Future was able to pry CG head Cliff Reid to provide some details in how they hope to achieve their goals. First, Reid disclosed that the test won’t be offered directly to consumers, but rather through retail providers such as Knome and 23andMe. That means the price you or I will see could be considerably higher than $5k. Whatever the retail price, Reid promises 120 billion base pairs sequenced, 98% of the genome, with just one error in 10,000. That’s considerably better stats than what CG offered in February (92% of genome, about one error in 1,000).

Between now and year’s end 2009, Complete Genomics will focus on its dozens of customers currently in the line up. These include the Broad Institute out of MIT and Harvard which announced it was purchasing at least 5 genomes from CG in March. The Broad Institute reportedly paid $20k for each of their genomes which might be taken as the current baseline price for CG customers. If so, that’s a factor of four that the company has to make up between now and next year.

But scaling is no problem for genome sequencing. Remember that it took 15 years to sequence the first human genome, but the next 6 were done in 24 months. Now we’re talking about doing thousands a year. That’s just nuts and one of the amazing parts about sequencing that I love. Exponential growth is sexy science. And it’s supposed to be one of CG’s strengths. They just finished their first genome in the summer of 2008, and are now on schedule to finish 100 by the end of 2009. Current estimates of finishing 1000 by mid 2010, and 9000 more by the end of that year fit within the exponential growth curve. As MacArthur points out, most of these sequencing services will likely be purchased by researchers in genomic and cancer studies. So the demand is also there.

How can CG scale so quickly? By remaining inflexible but efficient. Their process doesn’t rely on making huge improvements in sequencing technology. Or finding a new sequencing technique. It comes down to streamlining the process. Stick to one task, human genome sequencing, miniaturize whenever possible, fewer reagents means lower costs, and build build build. You can bet a huge portion of that $45 million is going to expanding their facilities in Mountain View.

Who provides the cheap genomes is probably less important than the change it will create. While scientific research will undoubtedly benefit first, the public at large will likely become a dominant consumer. Genetic information is on the journey to becoming one of the most important sets of data someone can know about themselves, with insights into disease, aptitudes, and longevity. Give us the chance for cheap access to that info and you’ll never run out of customers. Just a little while longer, it’s bound to happen.