Just because scientific advances now allow individuals to learn their genetic make-up doesn’t mean they should rush into genetic testing in hopes of making revolutionary improvements to their health, cautions a geneticist and practicing physician at the University of North Carolina at Chapel Hill.

“From a basic science perspective, the advances being made in genomics are important discoveries, but it’s unrealistic for individuals to believe those advances can yield meaningful information that will improve their health,” said James P. Evans, M.D., Ph.D., professor of genetics and medicine in the UNC School of Medicine. “And even saying ‘It’s not there yet’ is too optimistic. It’s going to be a long time before the potential is realized.”

Evans, who is also the director of the cancer and adult genetics clinics and the Bryson Program in Human Genetics in UNC’s medical genetics department, will talk about how personal genomics will affect human lives at a panel discussion titled “Your Biological Biography” at the World Science Festival (http://www.worldsciencefestival.com) being held in New York City, May 28 to June 1. Evans will speak between 1 p.m. and 2:30 p.m. on Saturday, May 31, at the Kimmel Center for University Life at New York University.

“The sequencing of the human genome revealed that in relative terms, humans are 99.9 percent the same,” Evans said. “But in absolute terms, we are very different. For example, a one-thousandth of a difference in their respective DNA profiles translates into more than 3 million differences between any two unrelated individuals.”

Some of these differences are medically relevant, in that they influence disease predisposition and response to drugs, areas Evans studies in his research. And the differences are of interest in non-medical ways, specifically when they address ancestry, behavior traits and the innate curiosity humans have about their genes.

Sequencing of the human genome, which was completed in 2003, also gave rise to commercial entities offering direct-to-consumer genetic testing for a fee, usually between $1,000 and $3,000. Evans worries that individuals may seek such testing with the false hope that they will get meaningful results regarding their risks for disease and actionable medical advice about how to decrease their risks.

“Much of the current excitement about genetics and medical genomics is predicated on the idea that knowing our genomes better will improve our health,” Evans said. “In fact, for the vast majority of such risk assessments, the increased risk of an individual developing the disease in question is modest – one- to two-fold over baseline. And in few such conditions are there specific effective interventions to diminish the risk. Further, there is little evidence that having the specific genetic information would actually induce a change in lifestyle.”

Society has tended to place an almost mystical association on genetic information, Evans said, adding that what to do with this new knowledge and how to interpret the information presents many unanswered challenges.

“Most physicians, by their own admission, are not geneticists and won’t know what to do with the information,” said Evans, who uses family history and genetic testing to evaluate and counsel patients about their risk for cancer. “Many who do understand the technology and how it is generated don’t know what to do with it. So there’s huge potential for patient harm – either for patients to be lulled into a false sense of security by this new genomic information or, in the opposite extreme, to have unnecessarily increased anxiety.”

And Evans said he can see even more extreme measures “where interventions are implemented – for example, a total body scan – that put patients on a road to invasive tests that they are better off not getting.”

Evans believes these challenges say something about how humans value information, but then fail to scrutinize what it really means. “It’s hard for me to over-estimate the beauty and utter significance of sequencing the human genome and other animal genomes,” Evans said. “The technology is very promising for all of us, but there is a big gap between having that knowledge and applying it for the betterment of human health.”

New data from a randomized, controlled trial found that acupuncture provided significant reductions in pain, dysfunction, and dry mouth in head and neck cancer patients after neck dissection. The study was led by David Pfister, MD, Chief of the Head and Neck Medical Oncology Service, and Barrie Cassileth, PhD, Chief of the Integrative Medicine Service, at Memorial Sloan-Kettering Cancer Center (MSKCC). Dr. Pfister presented the findings today at the annual meeting of the American Society for Clinical Oncology.

Neck dissection is a common procedure for treatment of head and neck cancer. There are different types of neck dissection, which vary based on which structures are removed and the anticipated side effects. One type – the radical neck dissection – involves complete removal of lymph nodes from one side of the neck, the muscle that helps turn the head, a major vein, and a nerve that is critical to full range of motion for the arm and shoulder.

“Chronic pain and shoulder mobility problems are common after such surgery, adversely affecting quality of life as well as employability for certain occupations,” said Dr. Pfister. Nerve-sparing and other modified radical techniques that preserve certain structures without compromising disease control reduce the incidence of these problems but do not eliminate them entirely. Dr. Pfister adds, “Unfortunately, available conventional methods of treatment for pain and dysfunction following neck surgery often have limited benefits, leaving much room for improvement.”

Seventy patients participated in the study and were randomized to receive either acupuncture or usual care, which includes recommendations of physical therapy exercises and the use of anti-inflammatory drugs. For all of the patients, at least three months had elapsed since their surgery and radiation treatments. The treatment group received four sessions of acupuncture over the course of approximately four weeks. Both groups were evaluated using the Constant-Murley scale, a composite measure of pain, function, and activities of daily living.

Pain and mobility improved in 39 percent of the patients receiving acupuncture, compared to a 7 percent improvement in the group that received usual care. An added benefit of acupuncture was significant reduction of reported xerostomia, or extreme dry mouth. This distressing problem, common among cancer patients following radiotherapy in the head and neck, is addressed with only limited success by mainstream means.

“Like any other treatment, acupuncture does not work for everyone, but it can be extraordinarily helpful for many,” said Dr. Cassileth. “It does not treat illness, but acupuncture can control a number of distressing symptoms, such as shortness of breath, anxiety and depression, chronic fatigue, pain, neuropathy, and osteoarthritis.”

“Cancer patients should use acupuncturists who are certified by the national agency, NCCAOM [National Certification Commission for Acupuncture and Oriental Medicine], and who are trained, or at least experienced, in working with the special symptoms and problems caused by cancer and cancer treatment,” she added.

Acupuncture, a component of Traditional Chinese Medicine, originated more than 2,000 years ago. Treatment involves stimulation of one or more predetermined points on the body with needles, heat, pressure, or electricity for therapeutic effect. A report published by the Centers for Disease Control (CDC) indicated that more than 8 million Americans use acupuncture to treat different ailments.

Acupuncture is being used in the palliative care of cancer to alleviate pain and chronic fatigue and to reduce postoperative chemotherapy-induced nausea and vomiting.

The study was funded in part from a grant by the National Cancer Institute. In addition to Drs. Pfister and Cassileth, other MSKCC contributors to the study include: Dr. Andrew Vickers, Dr. Gary Deng, Dr. Jennifer Lee, Mr. Donald Garrity, Dr. Nancy Lee, Dr. Dennis Kraus, Dr. Ashok Shaha, and Dr. Jatin Shah.

Memorial Sloan-Kettering Cancer Center is the world’s oldest and largest private institution devoted to prevention, patient care, research, and education in cancer. Our scientists and clinicians generate innovative approaches to better understand, diagnose, and treat cancer. Our specialists are leaders in biomedical research and in translating the latest research to advance the standard of cancer care worldwide. For more information, go to http://www.mskcc.org.

At the recent Annual Meeting of the American Urological Association (AUA), the Society for Pediatric Urology (SPU) convened to discuss a host of topical agenda items, presented by some of the world's top practitioners in pediatric urology. The meeting was attended by Pasquale Casale, MD, and Assistant Professor at the University of Pennsylvania in the Division of Urology at the Children's Hospital of Philadelphia. Dr. Casale's exclusive coverage of the meeting for UroToday.com follows.

Complete Primary Exstrophy Repair (CPER), Osteotomies, Tubularized Incised Plate (TIP) Hypospadias Repair, Mitrofanoff Procedures, and Laparoscopic Orchiopexy

Video sessions began the day. Dr Richard Grady from Seattle Children’s Hospital discussed the proper way to perform a complete primary exstrophy repair (CPER). The belief of CPER is the ability to allow tissue to return to an anatomically normal position. Key components seem to be at the bladder neck and not to include any nonurethral tissue. Osteotomies are required in newborns whose symphyseal diastasis is wide (greater than 4-4.5cms). Osteotomies are used in any baby over 48 hours old. He advocates a SPICA cast immobilization for 4 weeks. In girls, the urethra, vagina, and bladder are mobilized as one unit. Dr. Warren Snodgrass demonstrated techniques for the Tubularized Incised Plate (TIP) hypospadias repair. Key aspects are correction of the chordee and minimizing overlying suture lines. Urinary diversion in the form of urethral catheters seems beneficial. Long term data on voiding patterns is currently undergoing scrutiny. Dr. Joseph G Borer from Boston Children’s discussed Mitrofanoff Procedures emphasizing that patient education is the most important aspect in regards to safety and success. The characteristics of the tube itself should be short, smooth, and straight. The appendix should be placed in a submucosal tunnel of the bladder either in an intravesicle or extravesicle approach. Dr. Israel Franco demonstrated laparoscopic orchiopexy delineating the advantages of a laparoscopic approach, namely the outstanding visualization.

Proper Evaluation of Urinary Tract Infection, Laparoscopic Orchiopexy, Randomized Intervention for Children with Vesicoureteral Reflux (RIVUR)

The day continued with a panel discussion of the “Proper Evaluation of Urinary Tract Infection”. Douglas Coplen, MD emphasized that many children with urinary tract infections do not have an anatomic abnormality that contributes to the development of infection. Ron Keren, MD from The Children’s Hospital of Philadelphia discussed the ongoing Randomized Intervention for Children with Vesicoureteral Reflux (RIVUR) study, emphasizing that DMSA renal scan might be the best predictor of those who would need surgical intervention. Hans Pohl, MD from Children’s National discussed the “top down” approach showing that DMSA can help predict which children are at more risk regarding VUR.

Robert Lebowitz, MD from Boston Children’s highlighted the advances in pediatric urology over the past 35 years. It was an interesting perspective from a pediatric uroradiologist. Dr. Lebowitz discussed advances in imaging techniques that helped fine tune our practices. Steve Skoog, MD moderated a discussion on VUR. Barry Belman, MD focused on where we were in regards to VUR. He emphasized that in 1937, Campbell’s urology at that time stated that the bladder drives relux. For many years to follow, only a simple paragraph was devoted to reflux disease. In 1963, Douglas Stephens postulated that the abnormality in VUR was in the distal ureter. The most important contribution was in the 1980s where the International Reflux Study concluded that there is no difference in renal function between surgical and nonsurgical management of Grade 3 to 4 VUR. However, there was a lower incidence of pyelonephritis in the surgical group. Barry Kogan, MD continued the discussion with where we are in regards to VUR. Surgery has improved with less morbidity. Antibiotic use has decreased as parental concerns increased. Deflux is now available. Most importantly, DMSA scans seem to be most beneficial in regards to determining which children need a VCUG. Saul Greenfield, MD concluded the discussion with where we are going with VUR. His message was that our ultimate goal is to be able to segregate the majority of children with VUR who do not need treatment from those who need it. The RIVUR study is aiding to answer this question especially in regard to the need of antibiotic prophylaxis.

Advances in Trauma Care During the War on Terrorism

The Meredith Campbell Lecture was given by Col. John B. Holcomb, MD on advances in trauma care during the war on terrorism. The bottom line of this talk was that whole blood is the best for resuscitation in regards to being the most physiologic. The current accepted dogma of resuscitation is based on hypothesis more than outcomes. The bottom line was that we must always question what we do in order to advance and learn.

Debate on Adolescent Varicoceles Continues: Panel Discussion

The debate on adolescent varicoceles continues with a panel discussion involving Thomas Kolon, MD from the Children’s Hospital of Philadelphia, David Diamond, MD from Boston Children’s, and Kenneth Glassberg, MD from Columbia moderated by Evan Kass, MD. The debate continues despite excellent arguments from both sides. It appears that semen analysis should play a role in the decision to perform varicocelectomy since our endpoint is fertility. Dr. Glassberg made an argument that testicular vein velocity can be correlated to patients who are at a high risk of infertitlity and can help decide who might benefit from early intervention.

Potential Pay-for-Performance Issues During a Healthcare Crisis

A luncheon discussion was held on pay for performance issues that might arise in our near future based on the healthcare crisis in this country. Epidemiology and outcomes will have an important role in the overall economics of medicine.

Redo Surgery

The afternoon session began with redo surgery. Mark Cain, MD moderated the session. Michael Keating discussed the hypospadias cripple. One key aspect was not to be afraid to stage the cripple redo patients. Skin coverage seemed to be the biggest challenge. Dr. Howard M. Snyder III from The Children’s hospital of Philadelphia discussed redo pyeloplasty. He felt a transperitoneal approach was the best and in children older than one year of age, a laparoscopic or robotic approach was favored in his practice. John Gearhart, MD from Johns Hopkins illustrated the difficulties encountered with redo exstrophy surgery. This appears to be quite a tedious task that the take home message was to get it right the first time: don’t be afraid of osteotomies when needed; immobilization of the pelvis is key; postoperative hypospadias is more than acceptable in order to attempt to achieve continence; and parent education and counseling are imperative.

Ureteral Reimplantation Surgery, Vesicoureteral Reflux (VUR)

The day concluded with a video forum on less common ureteral reimplantation surgery. Techniques in open extravesical, combined extravesical-intravesical modified Politano-Leadbetter, laparoscopic extravesical, and a robotic transvesical Cohen approach were shown. It appeared that all the approaches had a comparable success rate with minimal morbidity on the patients. The technical difficulty of the laparoscopic and robotic approaches limits there use and the overall acceptance of the procedure. These minimally invasive approaches are currently under development. The future of MIS in VUR surgery will most likely be based on the advances in laparoscopic instrumentation and robotic platforms.

Presented at the Annual Meeting of the American Urological Association (AUA) - May 17 - 22, 2008. Orange County Convention Center - Orlando, Florida, USA.

Reported by UroToday.com Medical Editor Pasquale Casale, MD