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Genetic Testing
Bruce Nitsche, MD
The Human Genome Project, working from 1990 to 2003, spent $2.7 billion to produce a single human genome. About a year ago it would have cost you $50,000 to sequence your own personal genome, and at this point you could nd a bargain for 1/3 to 1/2 that price. It is predicted that within a few years, the technology and competition will allow personal genome testing for around $1,000. So we have gone from Mendel in the mid 1800s, to the Human Genome Project. How can we relate this to our own personal health? Many possibilities exist. Genetic testing can help with a diagnosis if a patient has certain suggestive symptoms. It can detect whether a person is a carrier for a genetic disease (meaning they can pass on the gene to their children, but do not have the disease). It can be used both pre-natally or in the newborn to screen for known devastating pediatric conditions. Genetic testing can diagnose whether a person has an inherited disposition to a certain disease before symptoms start. We can even use genetic testing to determine the type or dose of medication pharmacogenetics that would best treat a given disorder in the individual.
diabetes, cirrhosis of the liver and arthritis. The gene associated with this condition was identied in 1996, and since that time much work has been done to decide who should be screened and who should be treated. What we have found is a complex picture where some people with the genes get the disease, but most people do not. The penetrance is incomplete and we still have much to learn.
So should you start saving? To answer that question probably requires a primer on the principles of genetic diseases.
Humans have 23 pairs of chromosomes and an estimated 50,000 to 100,000 genes are positioned in a precise manner on the chromosomes. Three billion base pairs of DNA comprise the human genome, and more than 99 percent of the DNA sequence is identical between individuals. Population genetic variations are from the remaining 1 percent. We inherit our own genetic footprint from our parents in a pattern that was rst described in the 1800s by the Augustinian monk, Gregor Mendel. Through the observation of plants, he dened laws of inheritance that included terms such as autosomal dominant, autosomal recessive, compound heterozygosity, sex-linked traits, penetrance, etc.
Its all very exciting, and quite frankly, it is becoming more exciting every year. The Human Genome Project results reporting just began in 2003; this eld is in its infancy and rapidly expanding. Because of this, we must proceed with caution. With all we have learned has come expanded knowledge of all that we have yet to learn, and we must rst gure out how best to use this information to help, and not hurt, our patients. For example, one of the most common genetic linked disorders in Northern European descendants is hemochromatosis. This is a disorder of iron absorption that can lead to
Unfortunately, there will be those who prey upon the uninformed (or even worse, the partially informed). Already if you do a Google search for genetic testing, you will turn up more than 4 million hits. I can guarantee you that a large percentage of those are from unscrupulous sites looking to capitalize on the frenzy over the human genome. I refer you to one of my favorite web sites, www.quackwatch.com. Do a search for dubious genetic testing and you will nd an excellent discussion on the topic.
So, keep genetic testing in mind. Keep talking about it with your physician, but for now, keep an eye on your wallet.
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Got Sleep?
Leland Teng, MD
Do you struggle with falling asleep? How about staying asleep? Insomnia is a huge problem in America. Millions of dollars are spent on medications to help make people sleepy. Insomnia has many causes, ranging from serious medical illnesses to mental health issues. On the other hand, some people have just learned bad habits. This article is about healthy sleep habits a concept called sleep hygiene. These basic principles that can help assist sleeping.
yourself to sleep. Instead, before you go to bed, spend some time doing something that you nd relaxing and enjoyable. Dont focus on worries or major decisions. Some people nd it helpful to envision dropping their mental work briefcase outside the bedroom door. Your bedroom is your sanctuary away from lifes issues.
8. Provide a comfortable bedroom environment. Make sure your bed, bedding and room temperature are comfortable. Keep the room dark. Figure out how to keep your room quiet. Deal with anything that is a stimulus to awakening. This includes the pets and kids!
1. Have a regular bed time and waking time. People are creatures of habit. Having a regular bed time is helpful to get in a good sleep pattern. This is based on your bodys natural circadian rhythms. Fluctuations in your social schedule and work schedule can wreak havoc on this. In essence, this is like inducing your own private form of jet lag without the fun of traveling!
2. Stay in bed and sleep for only as many hours as you need. Your bed should be only for sex and sleep. Watching TV, reading or laying awake in bed trains your brain to stay awake in that physical environment. If you are lying awake for more than 20 minutes, get out of bed. Go read a book or do something that is not visually stimulating. When you become sleepy, go back to bed. Staying in bed for 10 hours when you only sleep for eight hours trains you to have less good quality sleep.
There are many dierent reasons for insomnia, ranging from serious medical illnesses to mental health issues. On the other hand,some people have just learned bad habits.
4. Avoid daytime naps. There is a certain amount of sleep that your body needs per day. So, if you take daytime naps, this may decrease your inclination to fall asleep.
9. Establish a pre-sleep ritual. Read a book, get a snack or take a warm bath. How about a massage? These habit patterns can be very eective sleep aids.
10. The Stanford Sleep Disorders Clinic has shown that these sleep hygiene guidelines in conjunction with light phototherapy (for example with a LED daylight simulator) after morning waking was benecial for patients with chronic psychophysiologic insomnia.
So try these tips . and talk with your physician. Virginia Mason has an excellent sleep disorders clinic and even has classes for all you true insomniacs. Please let us know if we can help out. In the meantime . sweet dreams!
3. Let go of the stress! Stress is a potent insomnia stimulator. If you are stressed about something at work or in your personal life, then you may tend to ruminate about it. For many people, this stress delays sleep onset and decreases its quality. Commonly, people are worried about whether or not they will sleep. Sound familiar? That worry itself is the stimulus that keeps the brain awake. Do not try and force
5. Avoid alcohol and caeine for at least four to six hours prior to going to bed. Alcohol may make you initially drowsy however it can cause you to be more awake hours later. Similarly, avoid vigorous exercise within two hours of going to bed.
7. Evening snacks may be benecial. Avoid excessive uids for obvious reasons.
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looking at the frequency of dierent types of hip fractures. Of the 284 hip fractures identied, only 12 were found to be atypical thigh fractures. Statistically, this analysis does NOT suggest a causative link. The authors of the analysis took pains to emphasize that treating 1000 women who had osteoporosis for three years would prevent about 100 fractures (including about 11 hip fractures) a benet that far exceeds the risk of atypical hip fractures. Another important point is that those patients who subsequently suered an atypical thigh fracture frequently noted persistent thigh pain beforehand. I would encourage any patient who does experience new onset of upper leg pain and who is taking a biphosphonate to check in with your Dare physician. One question not yet resolved is the duration of time a patient should take biphosphonates; some case reports of atypical hip fractures suggested prolonged treatment with biphosphonates may increase the risk. There are no clinical guidelines as yet to recommend when patients may safely discontinue biphosphonate therapy, although some authorities consider it reasonable for patients to take a drug holiday after ve years of treatment, particularly once there appears to be a residual benet on bone density for up to ve years after stopping treatment. If a patient does stop treatment though, careful monitoring of bone density is important. So, although there remain some unresolved questions about biphosphonates, the evidence suggests there is no justication for suddenly stopping these very useful medications, at least not without checking with your doctor!
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A Decade in Dare
John Kirkpatrick, MD, FACP
The Lewis and John Dare Center opened its doors in January 2000. The beginning was somewhat controversial, following nearly a year of debate as to whether a medical center should oer what was then termed by the press concierge or boutique medicine. In truth, The Dare Center was our response to patient demand that Virginia Mason oer a service that was already available elsewhere in Seattle, or face losing many of our loyal patients to a rival medical center. Supported by the tireless eorts of some of you, endorsed by our respected, nationally recognized health care authority Austin Ross, and bolstered by the combined lobbying of our president and CEO, The Dare Center became a reality. The Dare family graciously allowed us to use their name, and we will always be indebted to granddaughter Nancy Dare Parker and her mother Gordy Dare (now deceased) for their part in our beginning.
later. Other wonderful patients and their families signed up as the years passed, and weve sadly had to say goodbye to some. All have expressed gratitude for the uncommon level of attention and service that is at the heart of The Dare Center.
We were an enthusiastic, close-knit group then, determined to blaze a trail as the rst practice of its type in a major U.S. medical center.
Lilly, Becky Gan and Pat Schwartz-Garrison are also superb, and always willing to go the extra mile for patients. Bellevues current location on the lower level of the VM Bellevue Clinic is spacious and private, a tribute to their success. We also thank previous Dare physicians Hope Druckman, MD, and Patricia Auerbach, MD, for their contributions to the success of The Bellevue Dare Center, and wish them well as they pursue other endeavors.
We opened in two locations, Buck Pavilion Level 2, where we shared a waiting room with the Department of Psychiatry, and a second site in the Virginia Mason Winslow basement, where Bruce Nitsche, MD, and his medical assistant extraordinaire Cathy Greenawalt were stationed below street level. Bruces oce doubled as the treadmill room and their second exam room was the overow chickenpox isolation room. In our downtown site were our two beloved founding nurses, Nancy Lencioni and Katie Clack, and one doctor, me. Humble beginnings indeed.
As we grew, we added doctors, nurses and administrative sta, each bringing their own unique talents and skills. Lesley Althouse, MD, joined us downtown in 2001, and brought with her 100 of her faithful patients. Her panel has grown considerably and she continues to provide stellar care to all. We are now supported downtown by our trio of terric nurses Karla Litzenberger, Maureen Grant and Michelle Rae who have ably stepped into the big shoes left by the retirement of Katie in 2007 and Nancy in 2008. Katie has now returned on a ll in basis, and of course hasnt forgotten many of you veterans.
The Dare Center on Bainbridge Island changed its look in 2003 when Bruce and his assistant moved into the freshly remodeled former quarters of the local PAWS organization, next door to VM Winslow. Its cozy atmosphere is perfect for this hometown practice; many of you drop in after a trip to the grocery store across the street. When Cathy Greenawalt left us to return to her own hometown roots in Maine, Sandy Stevens, RN, took over the nursing duties at the Bainbridge site, aided by Janice Page, LPN, who has worked in multiple positions at VM for more than 25 years. Sandy previously worked in our downtown oce, but the nearly two-hour commute from Kingston each day was dicult, so it was simpler for Sandy to work in Winslow. Bainbridge patients will also remember other previous medical assistants there, Heidi Mainwaring and Pam Cruz. Some of you were also patients of Greg Keyes, MD, on Bainbridge; we appreciated his eorts while he was with us.
We were an enthusiastic, close-knit group then, determined to blaze a trail as the rst practice of its type in a major U.S. medical center. Many of you joined our practice in the beginning, and are still with us 10 years
Leland Teng, MD, joined us in 2001, two weeks after Sept. 11, and opened our Bellevue practice. Leland has been a wonderful addition with the kind attention and seemingly unlimited time he gives his patients. The Bellevue sta of Sandy Weir, Loretta
Continued on page ve
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I would be remiss if I didnt mention numerous administrative directors and managers who have ably assisted us over the years. Special thanks to Mike Rona, Darlene Corkrum, Patti Crome and Danielle Smith for getting us rolling. Amin Neghabat, Bob Marks-Nichols, Jim Bevier, Terri Hazelton, Marnee Iseman, Jennifer Graves and former chief of medicine Bob Mecklenburg, MD, also played important roles in our development, leading up to todays excellent management team of Therese Shipley, Gregg Hatch, KayCee Olson and Theresa Craw, along with Chief of Medicine Joyce Lammert, MD, and Vice President Mike Ondracek. Gary Kaplan, MD, Chairman and CEO, remains one of our biggest cheerleaders!
N E W S L E T T E R
The Lewis & John Dare Center Virginia Mason Medical Center Mailstop: X11-DARE 1100 Ninth Ave. P.O. Box 900 Seattle, Washington 98111
In This Issue
Genetic Testing pg. 1
Bruce Nitsche, MD Seattle (206) 341-1557 Bainbridge Island (206) 842-3809
Virginia Mason was founded in 1920 when a group of physicians decided to pioneer a new approach in a medical practice. Their goal: to work as one team. They pledged to provide the nest patient care possible by working together, asking only the best and brightest to join their team and committing themselves to lifelong learning and research.
Where did the name Virginia Mason come from? Actually, our name has its genesis in two young girls both named Virginia Mason. One of the founders, Dr. Tate Mason, had a daughter named Virginia. His partner, Dr. John Blackford, also had a daughter named Virginia Mason Blackford. And if that werent enough, both physicians graduated from the University of Virginia.
The founding physicians pooled their energies and resources and built an 80-bed hospital at the corner of Spring and Terry avenues in Seattle. Through the years, their