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Posts from the ‘Blogterview’ Category

Behind the Scenes of Medical Blogs: Over My Med Body!

As I promised, I’m going to present about a dozen of famous medical bloggers to you this month. My aim is to get my readers closer to these quality blogs and the bloggers as well. I’d like to convince more and more health professionals/people interested in medicine to create their own blogs by providing interesting “behind-the-scenes” interviews. I start my series with Graham Walker, a medical student and the blogger of Over My Med Body!.

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  • How do you find information for your blog? You certainly read other blogs, journals but do you use RSS reader? How many blogs do you track?

Oh boy. Yeah, I use bloglines–otherwise I’d have no way to keep up.

My main sources for my blog:
1) My own thoughts/issues/ideas that come up while in the process of seeing patients or discussing their care;
2) Discussions with classmates about being a doctor/caring for patients
3) Other medical blogs
4) The New York Times
5) Medical Journals and other magazines
6) Other blogs that happen to post health-related stories

I track probably about 20ish medical blogs, but then also read many, many more in other areas: web design/development, humor/weird internet stuff, news sites.

  • You’re a medical student just like me. I know how hard it is to find time to maintain your blog. How can you handle it?

It’s actually often therapeutic for me–releasing all the thoughts I’ve had built up for a while–often this is why I’ll go for a week or two without posting much, and then write a ton all at once. On busy rotations, I will often have a TON to post about but just not the time to do so–or I have so much reading to do and things to learn about that I don’t get to it, either.

  • You’re in your third year, so you surely know what kind of medical specialty you’re most interested in. Tell us please!

I’m actually in my 5th year (I need to update that about me page!) of med school. At Stanford we’re kind of weird in that most of us take an extra year to do research. So I’m in my final clinical year–and I’m going into Emergency Medicine. Currently preparing my residency application.

  • Why don’t you publish your name on your blog?

I’ve posted it on occasion–and it was printed in the US News article, so I’m not particularly anonymous. If you google my name, my site is usually the first or 2nd link–so it’s no secret where I am or who I am–it just takes a little more work, I guess.

Yeah, I put that together summer after my first year of medical school.

  • Do your fellow medstudents know about your blog? I’m often asked whether my professors like my blog. I always say I’m pretty sure they don’t even know about it. So do your professors appreciate the work you’ve done through your blog?

My classmates will read from time to time, and mention a particular post in passing. I’m sure an attending or two has seen my blog, but I don’t really know what they thought of it. The usual reaction is just a fairly passive, “Oh, interesting.”

  • In Second Life, in the Ann Myers Medical Center, a medical student can participate in training exercises, case presentations. Would you be interested to learn from physicians and with medical students from around the world? Do you think it can have an impact on the future of medical education?

I don’t know–I’m not as excited as others may be–I could see it perhaps being useful for clinicians around the world to communicate or interact, but I have so much learning and knowledge to acquire in the real world (and I personally acquire it much better with actual patients than with case presentations) that I wouldn’t be too interested. But for other students that don’t have as much access to quality teaching and education, I can see how it might be very useful!

  • At last, what are your future plans with your blog?

That’s a great question. Residency is going to suck, and be super time-consuming, so we’ll just have to see what happens. And I’ll officially be a hospital employee, instead of a medical student, so I’m not sure what my future residency director will think. For right now, I’m thinking that it may disappear, or at least go into hibernation–I may start focusing more of the site on my photography. Who knows.

Thank you, Graham, for the kind answers! Check out his blog for more!

Personalized Genetics/Genomics: Blogterview with Steven Murphy, MD

I’ve recently decided to deepen my knowledge on the field of personalized genetics/genomics as it has an exceptional future in the realm of medicine (and business). And who is the right person to answer my geek questions? Of course, Steven Murphy, MD, the blogger of the Gene Sherpa. He is the Clinical Genetics Fellow at Yale University and is also the founder of a Personalized Medicine practice.

  • We’ve heard a lot about personalized medicine, but please tell us more about personalized genetics.

Sure. There are some fundamental differences here. When I think about personalized genetics (Which is different than personalized genomics) I think about modifier genes involved in single gene disorders such as Cystic Fibrosis. A few months ago, I diagnosed a 70 year old woman with CF. She had been treated as if she had emphysema, had never smoked, and no Alpha 1 Antitrypsin deficiency. Something didn’t sit right with me. We had her get sweat tested and sequenced. Guess what? Compound heterozygote with one Delta 508 mutation. How could this happen? Modifier genes. There is a nice review of modifier genes in CF several months back in the New England Journal of Medicine. That is personalized genetics in my opinion…

Should we treat you aggresively or not? This woman clearly did ok without Creon (pancreatic enzymes), aggressve pulmonary toilet, or inhaled antibiotics. Now with the newborn screen we detect so many more patients with Cystic Fibrosis. Who should we treat? How should we treat? Personalized Genetics is like personalized medicine for those with single gene disorders. I remind you that “No gene is an Island” so we need to take it in context of the rest.

  • Personalized genetics or genomics? Is there any important difference?

Personalized Genomics is a totaly different animal. Here we deal with what everyone affectionately calls the “Personal Genome”. This is the dream of everyone gets a genome sequenced at birth, we assess risk, create prevention plans, identify idosyncratic drug reactions prior to medication therapy. The fear is obvious…”When is GATACA coming?” I think that we need to put protections in place to prevent discrimination from more than just employers and insurers. What about that University you want to get in to? In addition there are several problems with whole genome screening aside from its multimillion dollar pricetag (which is dropping quickly). That is the problem in medicine known as the incidentaloma.

Quite often when ordering a CT scan, or chest xray, or what ever radiologic test we find tumors/cysts/masses in a completely asymptomatic patient. Does this mean we identify a cancer or other life threatening thing before it can cause damage? Sometimes, but more often than not we end up spending thousands of dollars evaluating something that turns out to be nothing. Just an incidental finding in an otherwise asymptomatic patient. An article entitled The incidentalome: a threat to genomic medicine.” was published in JAMA in July of 2006. Mathemeticians modeled sequencing the whole genome. As they get up to sequencing 10.000 people they find that the fraction of the population with a false positive result skyrockets up to 60%. What does this mean? Well, we have to carefully select who we test. Or better yet we need an immense database of “Normal Variants”. At a minimum we will need 1000s of “sequence specialists” or “computer sequence analysis programs” to evaluate and decide if the “work up” is indicated or not. Personal Genomics is very complex, even more than personalized medicine.

  • What about the big companies focusing on personalized genomics/genetics?

We have key players including Illumina, 454 who has now been eaten by Roche, Affymetrix, Ventner, I could go on and on. The newest one to watch for is from the brainchild of 454 Jonathan Rothberg. He is launching a company called RainDance technologies. RainDance is already collaborating with Bayer Pharmaceuticals on high-throughput screening assays, noting the vastly superior statistics and reagent costs. What this means is a whole new means to sequence. If you add that into the nanopore sequencing mix at Harvard, then you have a robust field for development. I am sure I have missed a few, but these seem to be the key and future players to me.

As for personalized genetics, I know that the old stalwards like Genzyme, Genentech, BioMarin are all playing a role in defining the right infusion/pill for the right person with the right monogenic disease. Also you cannot forget about TGen who is building a presonalized medicine medical school in Arizona. My gosh I could just ramble about all of these things, but I will spare you all the details.

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  • As bioinformatics plays an important role in this rising field of medicine, how can web (especially web 2.0 ) help personalized genetics?

Web 2.0 and 3.0 can be best harnessed by networks of researchers sharing findings in open source forum. We need to give up the “Prize” for publication. Instead we need to nurture inter-institutional collaboration. In fact I would say we should prize how many universities were involved in every study. The web infrastructure can allow all of these things. In fact imagine coming up with a question in EST and shipping it to Mumbai for analysis during EST night-time. This is already happening in business. True, research takes more than overnight, but what if we were just talking about design. We could literally be working 24/7 to solve problems!

My dream is just that. The spirit of innovation, collaboration, and revolution all moving to solve the greatest code ever devised…DNA

I’m very thankful to Steven Murphy for the kind answers! Follow his blog for the most interesting news and explanations of personalized genetics.

Newborn Screening in the US: a mother’s story about how to improve a whole system

Some time ago, in one of my posts I noted that I was looking for a newborn screening specialist. Then I got a letter from a mother of a boy with MCAD (medium chain acyl CoA dehydrogenase defect) from Texas and I had to realize how incredible story she had. Laura Clow who is also a member of www.savebabies.org website, kindly answered my questions.

  • Please tell us the story of your boy! How was he diagnosed with medium chain acyl CoA dehydrogenase defect?

Brickman was a full-term, seemingly perfect, healthy baby & toddler, hitting every developmental milestone ahead of schedule. When he was 19 months old, he became ill with a stomach virus. He went 18 hours without food because of the illness. He began having seizures and slipped into a coma. The doctors at the E.R. could not determine what was wrong. His lab-work (which took 3 hours to receive) from the hospital revealed that his glucose level was 7 in the blood and 2 in the spinal fluid. When this was discovered, we were in a critical care ambulance in transport to a children’s hospital in Dallas. The paramedic put glucose into his circulation immediately.

He remained in the coma for 15 hours, was in a Pediatric Intensive Care Unit unit for 2 days and stayed in the hospital for 6 more days. Lab tests were sent to Duke University and it was determined that he had MCAD. My husband and I had genetic testing and he has the most common MCAD mutation and I have one that had not been discovered until that time. We then learned that other states in the USA routinely screened for MCAD in the newborn screening panel and that we could have ordered the test for only $25.00 at the time of his birth if we had only known about it. By the grace of God, Brickman did not suffer any long-term consequences from the metabolic crisis.

  • You told me that your family has been very active promoting awareness of supplemental newborn screening. You even went to the state capitol and testified in front of the Health & Human Services Committee. Why did you do that and what are the results?

When I learned that the state lines in which we lived prevented us from knowing about his condition at birth and that we could have paid $25.00 for a supplemental screening test, I was mad, but determined to make a difference for others. I joined two support groups (www.fodsupport.org and www.savebabies.org ) and met many families whose children had died or suffered permanent brain damage from undiagnosed metabolic conditions. I did not want another family to have to endure a tragic experience because of lack of proper newborn screening. Educating others about newborn screening became my passion.

I have worked at many trade show booths, baby fairs, spoken to Mom’s groups, midwife groups and doctors to promote awareness of expanded newborn screening. I would stop pregnant women in the grocery store and tell them about it. I also gave supplemental newborn screening kits with a check for $25.00 to many of my friends.

One day, I contacted my State Representative to express concern about lack of proper newborn screening in Texas. About that same time, the March of Dimes was pushing for states to expand newborn screening programs across the USA. We teamed up with the March of Dimes when Texas was considering expansion of their program in April of 2005. We traveled to the State Capitol and testified in front of the Health & Human Services Committee. There were several other affected Texas families there as well. The proposals passed the House and the Senate, but the expanded screening did not actually begin until December 2006. Texas now screens newborns for 27 inherited disorders – 19 more than before.

 

 

  • What are your plans for the near future?

Great Question! I wish I knew the answer! I am looking for a job for the fall because my youngest child will start Kindergarten. I was an elementary school teacher before I had children, and I would like to teach again or work in the field of expanded newborn screening.

The Save Babies Through Screening Foundation is a non-profit, volunteer-run foundation which exists to promote awareness and educate others about expanded newborn screening. The website has many links to the 50 USA state newborn screening programs, information about how to obtain a supplemental screening kit, family stories and more. They also have an email list where families can seek support from others and share information.

I’m totally amazed by the work and enthusiasm of Laura Clow. It became true that mothers like her can improve even a whole system.

 

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Blogterview with a blogger fighting Pompe disease, a rare genetic condition

profile_pic.jpgRecently, I’ve had a post on Pompe disease, a rare, but important genetic condition. Juan, at fightpompe.com commented the post, then I asked him to answer some of my questions. Juan is blogging about his fight with Pompe disease. There are about 10,000 Pompe patients in the world. The diagnostic delay and the misdiagnosis deprives these patients of proper and early therapy. We hope we can call attention to this condition.

  • Please tell us about your condition and the misdiagnosis.

My name is Juan Magdaraog. I suffer from the juvenille/adult onset of Pompe Disease. Pompe disease first manifested itself when I was around 10 years old. At that time no one in the Philippines knew what it was. In fact I was misdiagnosed till I was about 15 years old. The first diagnosis was Muscular Dystrophy. It was only when I had a chance to go and see a Muscular Dystrophy specialist in San Francisco that a proper diagnosis was made. The verdict, it was Pompe Disease.

I’ve been dealing with Pompe Disease for quite a long time now. 19 years as of this writing. It’s been a tough life. Filled with a lot of challenges and difficulty. Despite that I’ve managed to do a lot of things.

  • Why did you start to maintain a blog on Fighting Pompe?

I wanted to advocate for Pompe’s disease. I’m not a scientist or a doctor so I didn’t want to talk much about medical terms and/or statistics. I wanted to share what it’s like to have Pompe’s disease . I wanted to show people the human aspect of the disease. All diseases have a human aspect, how it affects our lives. I wanted to show that.

I felt the best way to advocate for Pompe was to share my life and my struggles as well as my victories. Pompe is a part of my life but it doesn’t have to define me. There’s more to me than Pompe. I wanted people to know that despite dealing with a devastating disease, there’s still life beyond that.

  • I’ve had a post on Pompe, and I’ve listed the main characteristics of the condition. Which of them do you have to struggle?

Having the Juvenile/Adult type of Pompe, I’ve had to deal only with the skeletal muscle weakness. My heart and liver seems to be unaffected or not very severely or significant to warrant symptoms. My biggest problem right now is the respiratory muscles. I don’t mind not being able to walk. I can live without walking but I can’t live without breathing. That’s always a cause for big concern.

  • What do you find the most important point in Pompe’s diagnosis? How could we help the patients and physicians?

The most important thing for Pompe patients or any patient for that matter is to get a timely and accurate diagnosis. The earlier a Pompe patient can be diagnosed, the better it is. We’re at a point in time wherein there’s a therapy that’s available for Pompe patients. The sooner patients are on the therapy the less severe the symptoms will get. If I was diagnosed properly at the time the first symptoms manifested and I was put on the Enzyme Replacement Therapy, I could still be walking now. So it is important to get the diagnosis as soon as possible.

Information is the best thing we can do to help patients and physicians. As a Pompe patient the best thing I can do is share my experience in hopes that people will learn from it. That’s what all patients should do. While there is a concern about privacy I felt that my privacy is not as important as helping others. As such I’m always happy to talk about my disease and how it affects my life.

  • What do you like to do in your sparetime?

I’m just like your normal 29 year old. I like things that most people my age like. I like watching movies, surfing the internet, hanging out with my friends, etc. I love Apple and Ferrari. Those are the two things I am big fans of. I like watching Formula 1. I love my Mac. I like technology in general and spend time reading about it. I spend a lot of time talking with friends. I just like being around people.

  • Do Myozyme infusions help? How do you feel now?

Myozyme is a not a magic drug that will instantly help Pompe patients jump up and down. I’ve been on it for a year and 2 months. There have been no miraculous improvements but I am happy to say that for the first time since I was born, this year is not worse than the last. Meaning my physical state has not gotten worse over the past year. That’s tremendous by itself. In some aspects I’ve even improved. I’ve regained a tiny bit of strength in my arms. My voice has gotten a bit stronger. To a certain extent my breathing is a bit better.

I still have a long way to go.

  • What do you expect from the near future?

As long as I get to continue Enzyme Replacement Therapy, I’m expecting to steadily improve. As more glycogen gets cleared from my cells and as I put more effort into exercising and eating a more balanced diet, I hope that my body starts repairing what it can. I’ve being exercising more consistently the past 2 months and I’ve seen some improvements in my arms. The muscle tone is slightly improving. From being flabby to becoming a little firmer.

I am not expecting any miracles in the future. I’d be happy to regain some upper body strength. The most I’m hoping for right now is to get off my Bi-Pap machine even if it’s just during the day time.

Thank you, Juan for the answers and keep up this kind of fantastic blogging!

Blogterview with Michael Breus, the sleep doctor

drbreus.jpgDr. Michael Breus is a practicing Ph.D. in clinical psychology with a specialty in clinical sleep disorders. He is the editor of the Insomnia Blog and the co-founder of SoundSleep Solutions. His book “Good Night: The Sleep Doctor’s 4-Week Program to Better Sleep and Better Health” was published in 2006.

  • Why did you specialize in clinical sleep disorders?

In no other area of psychology could I help people change their lives so quickly. I can help someone in less than 48 hours some times and it is really rewarding.

  • What do you find the most common sleep problems among patients?

Without question Insomnia is the greatest challenge to sleeping, however Apnea has gotten “center stage” because it is easier to measure and treat.

  • What are your suggestions? How to sleep better?

If I had to pick just a few I would say:

1) Reduce the amount of light you are exposed to before bed: light tells your body to wake up not sleep. Put dimmer Switches in your bedroom and switch the bulbs to 40 watts, or use a book light.

2) Create a “Power Down Hour” this is a situation where you give yourself 1 hour before bed to do some very specific things: 20 minutes for mindless chores ( dish washing, light cleaning, getting ready for the next day) ; 20 minutes for Hygiene; 20 minutes of relaxation.

3) Go to bed on a regular schedule and when you are tired.

  • Is it important to dream? Does it mean a problem if we don’t dream?

Everyone dreams, we just do not remember it. Dreaming can occur in any stage of sleep but has the greatest likelihood of occurring during REM sleep. If you want to remember your dreams, keep a pad by the bedside and write down exactly what you were thinking about when you woke up. Give it a week and see what happens.

  • Please tell us about your book: Good night!

The book is set up in 3 parts:

1) Part I: This list the 6 culprits of poor sleep and what can be done about them right now. The 6 are Anxiety, Caffeine, being a female, being a parent, traveling, and your bed partner.

2) Part II: Tells you all the reasons why sleep is important: It helps with beauty, sex, exercise even loosing weight. This is where the really interesting science is located.

3) Part II: This is a 28 Night Program that gives you a step by step guide for 28 nights to better sleep.

  • What was the weirdest case in you practice?

I have had so many it is hard to say. In one insomnia case we found someone who actually had a brain tumor causing the insomnia, in one Apnea case we found a very rare problem where one half of the brain had formed outside of the skull and was pressing on the respiratory center, in an RLS case we found that the person was actually anemic from giving his very rare blood type twice each month. The list goes on and on.

Thank you for your answers!

Scienceroll in this week’s Grand Rounds

This week, Grand Rounds (Vol. 3. No. 16) is hosted by Dr. John LaPuma and focuses on food and diet.

And from Hungary, medical student NCurse blogterviews (for real) naturopath Tom Greenfield about the Blood Type Diet, the science of which is unfamiliar to many clinicians, and separately about nutrigenomics, also unfamiliar but fast gaining scientific credibility in the West.

Thank you for including my posts!

Tell me your idea!

After two blogterviews:

I plan to make many more. I’ve tried to make contact with bigger names such as Craig Venter (I was curious about the minimal genome project), but no answer yet. I would like to ask you to tell me my your opinion. Who are you interested in? Whose opinion would you like to read? And in what fields: medicine, genetics, Wikipedia…?

Blood Type Diet

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I blogterviewed Dr. Tom Greenfield, a naturopath to know more about nutritional genetics, naturopathy and blood type diet. First, I wanted to write a short lead about these expressions, but he totally answers every questions.

1. First please describe your work for us! I’m sure that Naturopathy is not widely known even among physicians.

As a naturopath I work with nature, not against it, which means my treatment aims to augment health, and does not suppress the patient’s vital force. The intention is to educate the patient to be self-sufficient in improving and maintaining their level of health; to prevent illness from taking hold by building vitality and ensuring a good quality of basic health, or building immunity.

Naturopathic treatment is founded on 3 basic tenets, or foundations of health: physical, biochemical and emotional/vibrational. These three aspects make up the whole person, who interacts with the environment. The idea is to assist the patient to achieve their maximum potential, based on their inheritance. Genetics plays a part in assessing the potential of an individual. The job of a naturopath is to assess which of the three health tenets may be showing weakness, and help the patient by supporting that aspect of their wellbeing, through whichever type of treatment is appropriate: physical (massage, manipulation, postural correction); biochemical (diet, fasting, supplements, herbal medicine); emotional (counselling, homoeopathy, acupuncture). These are seen in the context of the interaction between the person with their environment, and may involve detoxification or methods of protection from environmental hazards.

The way I work with patients is by obtaining simple genetic measurements, such as blood group, subgroups, dermatoglyphics and other biometrics, looking at medical risk factors associated with those polymorphisms, and then working with natural ways to reduce those risk factors. The method is based on research by Dr. Peter D’Adamo, author of the Eat Right for Your Type series of books.

2. What is the Blood Type Diet about?

The Blood Type Diet is the starting point for the concept of nutritional genomics in natural medicine. Nutrigenetics is about the application of genetics to human nutrition, and the Blood Type Diet is based on the premise that there is a haplotype, or set of single nucleotide polymorphisms associated with each blood group through genetic linkage, that can increase or decrease the risk of specific diseases for individuals with that blood group. These health risks can be lessened through dietary choices. The concept has moved on since the publication of the book Eat Right 4 Your Type in 1997, and now includes other polymorphisms in addition to blood groups, such as dermatoglyphics. Genetic testing is currently expensive and requires investment in high-tech laboratory equipment, but using low-tech methods that can be obtained in the clinic, the physician can obtain a large amount of information about their patient based on extensive medical research dating back to times before genotyping.

3. Are the Right 4 Your Type products registered by the FDA? Are there any publications on the subject?

Very few natural medicines are FDA-registered due to the huge cost of testing pharmaceuticals in clinical trials. The Right 4 Your Type products are blood group specific or blood group compatible natural medicines produced by North American Pharmacal (NAP). The NAP website ( http://www.4yourtype.com/ ) contains information about the products and their suitability for individuals of particular blood groups. For example, due to the preference of certain commensal bacteria for various carbohydrates which make up the blood group antigens secreted by the intestinal mucous membranes, there are 4 different probiotic supplements available according to blood group, each containing different bacterial strains. Clinical experience taking blood groups into consideration has identified ways that individuals of particular blood groups may do better on certain natural medicines, and this is incorporated into the NAP formulations.

4. Please tell us more about salutogenesis, how and when did you first meet this expression?

“The Salutogenetecist” was the title of a lecture given by Dr. Joe Pizzorno at the Institute for Human Individuality conference on nutritional genomics in 1995. Dr. Pizzorno is one of the world’s leading authorities on science-based natural medicine, president emeritus of Bastyr University and author of many books on naturopathic medicine. Dr. Pizzorno founded Salugenecists inc. (see http://www.salugenecists.com/ ), the name of the company being based on the word ‘salutogenesis’, a term coined in 1979 by Aaron Antonovsky. Salutogenesis is therefore the opposite of pathogenesis (the cause of disease). Dr. Pizzorno took the meaning of the term one stage further to include the genetic origins of health in the context of natural medicine, the pharmacogenetics of the natural pharmacy.


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Interview with Shane McKee, a clinical geneticist (part two)

The second part of the interview with Dr Shane McKee, clinical geneticist.

  • What do you think about prevention? What conditions, disorders are screened in your country?

Many of the disorders we see (particularly some of the congenital abnormalities) are not “preventable”, although the big exception to this would the use of folic acid to prevent neural tube defects such as spina bifida. Prenatal diagnosis is available for a wide variety of serious genetic disorders, such as Down syndrome, Hurler syndrome, I-cell disease (as mentioned above), and many other conditions. We also refer to teams in England where appropriate for preimplantation genetic diagnosis (PGD), where genetic diagnosis can often be made by taking a single cell from an IVF embryo. Screening is a bit more difficult, but at the moment we routinely screen in the neonatal period for PKU, CF and hypothyroidism, in common with many regions in the UK.

  • What kind of results do you expect from the near future in clinical genetics?

I think we are heading rapidly towards a much deeper understanding of the genome, and its role in human disease – particularly the “common” disorders that don’t usually come our way in genetics, such as heart disease, diabetes, dementia, etc. I also think that as we understand all these diseases more, we will be able to start treating them more effectively. However, this is likely to be very expensive for some disorders, so there are many public health priorities that need to be sorted out. Rare disorders affect a very large number of people – I sometimes joke to the medical students that “common things are common, but rare things are even more common!” All doctors will need to have at least some understanding of genetics and human biology. It amazes me that many medical school students have very little knowledge of the most fundamental principles of biology, particularly evolution. Genetics has already revolutionised that, and the genomes of many species are now available for free on-line. This is a spectacular resource, and all the more thrilling when you realise how close we came to having the whole thing in the hands of greedy private companies. I would strongly recommend that people read “The Common Thread” by Sir John Sulston (who shared the Nobel Prize for his efforts), which gives a startling insight into the attitude of some towards humanity’s common inheritance. I think we are also moving towards treatments for diseases like Huntington’s Disease and Duchenne Muscular Dystrophy – in 20 years’ time I would like to be able to use such treatments to radically alter the type of medicine I practice! That is going to take a significant degree of research and investment.

  • Do you use Wikipedia as a source of information?

Actually, I don’t generally use Wikipedia for specific information, because many of the disorders I deal with are too rare, and the information on Wikipedia is not rigorously peer-reviewed. However, there are several very useful databases that I regularly use for information, such as OMIM (“On-line Mendelian Inheritance in Man”, hosted by the NCBI: www.ncbi.nlm.nih.gov), the London Dysmorphology Database (very useful for looking up syndromes), Ensembl (www.ensembl.org), GeneReviews (www.genetests.org), and the UK Genetic Testing Network (www.ukgtn.nhs.uk/gtn). There are others of course, and it is very important to keep abreast of latest developments. I tend to hit PubMed very frequently, as things in this specialty can change very quickly – you might read in a journal about the gene for some condition being found, then the next day a patient with the condition can walk into your clinic.

Dear Shane McKee, thank you very much again for the answers. I was surprised by the newborn screening of your region. Here, we also screen for biotinidase defect and galactosaemia, but we can’t screen for CF. It’s always great to learn about other countries’ systems.

By the way, I hope we can improve the health related articles in Wikipedia in order to get the attention of experts like Dr. McKee.


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Interview with Shane McKee, a clinical geneticist (part one)

Dr Shane McKee MD BSc MRCPCH FRCP(Edin) is a consultant clinical geneticist at the Northern Ireland Regional Genetics Service in Belfast. I’ve found him as the webmaster of several genetics related sites such as the Irish Society of Human Genetics or the Clinical Genetics Society. He has been given the ISHG Young Investigator Award for the best oral presentation at the ISHG annual conference about Benign Familial Infantile Convulsions – a clinically and genetically heterogeneous disorder. He was very kind when I asked him to answer some of my questions. Here is the first part of the interview:

  • How and why have you become a clinical geneticist?

Even from before I became a doctor, I was interested in Clinical Genetics, and the role of genetics in the development of humans and other species. Genetic factors underpin a huge amount of the variation in the population, including our susceptibility to disease. At medical school (Queen’s University Belfast) I took a year out of my medical studies to get an intercalated degree in Medical Genetics. I could see that genetics was a field of medicine that promised to revolutionise our understanding of human biology and disease. I still believe that this is the case. But what makes any aspect of medicine worthwhile is the interaction with patients and families. Educating patients in the causes and management of their own conditions can be incredibly rewarding.

  • Which fields are you specialized in?

I practice quite a wide range of genetics, and see a very wide range of conditions, from prenatal to general to dysmorphology through to cancer genetics. In some ways, Genetics is one of the last truly general hospital specialties – we can see anything and everything! This is not surprising, because the majority of human disease has at least some genetic element. However, many of us are becoming increasingly specialised, as a result of the sheer breadth of conditions that we have to see. One area of particular interest to me is epilepsy genetics. This is becoming increasingly important as more of the genes causing epilepsy are found, and we’re starting to see how different anti-epileptic drugs might work.

 

  • What are the most often genetic conditions, disorders in your region?

In Northern Ireland we see pretty much the same range of conditions as elsewhere in Europe, although the rates of cystic fibrosis and haemochromatosis are a bit higher here. We also have some population subgroups, such as the Irish Travellers, who have a high rate of disorders such as mucopolyaccharidosis type 1H (Hurler syndrome) and I-cell disease. We also see a lot of hereditary bowel and breast cancer, which is also the case in the rest of Europe.


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