Answering “Why” When Someone Suddenly Dies: Genetic Testing Pilot Project for Sudden Cardiac Deaths

DNA strandThe situation is terrifying. A seemingly healthy person suddenly collapses – unconscious – and tragically dies from cardiac arrest. Family members in their grief ask “Why?” and maybe even “Can it happen to us too?”

A pilot project between the University of Wisconsin Collaborative Genomics Core (UWCGC) and University of Wisconsin Hospital and Clinics (UWHC) Autopsy Services hopes to provide some answers.

The pilot project allows family members of people who pass away from suspected sudden cardiac deaths to have genetic testing performed on specimens from their deceased loved one, either as part of an autopsy at UWHC or just the testing alone. The test panel, performed by the UW Collaborative Genomics Core, is free of charge and looks for specific genetic markers related to sudden cardiac death.

Family members will receive the results of the testing from their designated healthcare provider. Genetic testing may identify inherited cardiac disease in 25-30% of these individuals. This provides the family an opportunity for closure, and also allows family members the option to be tested for the identified, and often treatable, genetic condition.

The goal is to identify gene variants related to sudden cardiac death in affected individuals to aid in diagnosis of at-risk family members who can then be connected with appropriate medical management.

“From one person who tragically dies, we can potentially help many people who might also be affected by hidden cardiac conditions,” said Jennifer Laffin, PhD FACMG, director of cytogenetics and molecular genetics within the UWCGC, director of UW Cytogenetics and Molecular Genetics at the Wisconsin State Laboratory of Hygiene (WSLH) and UW associate professor of Pediatrics. “We are hoping to significantly reduce sudden cardiac death in Wisconsin.”

The idea for the pilot project came from Kate Orland, MS CGC, a genetic counselor in the UW Department of Medicine’s Division of Cardiovascular Medicine. The team worked with Erin Brooks, MD, a UWHC pathologist and UW associate professor of Pathology and Laboratory Medicine, and WSLH Genetic Counselor Kimberly Anderson, MS CGC, to develop workflows and patient/provider tools to accomplish the testing.

“Although rare, sudden cardiac death in a young person (<40 years of age) does occur, leaving relatives in shock and eager to find an explanation,” Orland explained. “Genetic testing is sometimes the only tool available to determine the cause of death, particularly in the case of inherited arrhythmia conditions, which have little to no evidence on an autopsy.  Moreover, it is difficult to obtain insurance coverage for postmortem genetic testing.  The opportunity to offer testing to grieving families is not only a tremendous service; it can potentially provide critical risk assessment information for the living relatives, who could have a 50% chance of sharing the genetic variant.”

It’s expected that there will be about five cases of sudden cardiac death per year who will be tested as part of the pilot.

Family members also can have their loved one’s specimens banked at the WSLH DNA Bank for future testing.

“Although this testing won’t bring back their loved one, it can hopefully offer some insight into why they may have passed away and provide information to the surviving family members to help manage their health, if needed,” said Dr. Laffin.

Thanksgiving Holiday Hours

The Wisconsin State Laboratory of Hygiene will observe the following hours of operation for the Thanksgiving holiday:

 

2601 Agriculture Drive
DATE HOURS
Thursday, 11/24, Thanksgiving Day Closed
Friday, 11/25 6 AM-4:30 PM
Saturday, 11/26 6:30 AM-2:30 PM

 

465 Henry Mall
DATE HOURS
Thursday, 11/24, Thanksgiving Day Closed
Friday, 11/25 6 AM-4:30 PM
Saturday, 11/26 6:30 AM-12 PM (Noon)

 

Tracing the isotopic signature of lead – Is it bullets, water or paint?

Tracing the isotopic signature of lead (Pb) in both an adult who had bullet fragments embedded in his leg for 10 years and his young child who also had elevated blood lead levels (BLL) is the subject of a recent paper in Biological Trace Element Research.

The paper is the first resulting from isotopic analyses performed on the Multicollector Inductively Coupled Plasma Mass Spectrometer (MC-ICPMS) in the Wisconsin State Laboratory of Hygiene Trace Elements Clean Lab. The case is novel in that the MC-ICPMS was used for testing both clinical and environmental samples. The technology has been used for environmental testing for several years, but using it to test clinical specimens is still quite rare.

The article highlights the power of MC-ICPMS technology to determine isotopic signatures for environmental source tracking in public health.

Read the article here — http://link.springer.com/article/10.1007/s12011-016-0872-3

From the article …

“This study compared the high-precision isotopic fingerprints (<1 ‰ 2σ external precision) of Pb in the adult’s and child’s whole blood (WB) to the following possible Pb sources: a surgically extracted bullet fragment, household paint samples and tap water, and a Pb water-distribution pipe removed from servicing a house in the same neighborhood. Pb in the bullet and adult WB were nearly isotopically indistinguishable (matching within 0.05–0.56‰), indicating that bullet fragments embedded in soft tissue could be the cause of both acute and chronic elevated blood Pb levels. Among other sources investigated, no single source dominated the child’s exposure profile as reflected in the elevated BLL.”

 

Kate Smith, WSLH chemist and lead author on the article, analyzes samples using the Multicollector ICP-MS in the WSLH Trace Elements Clean Lab. The MC-ICPMS contains 9 Faraday detectors under high vacuum. Each detector can be tuned to measure the specific atomic mass of the individual isotopes of an element. With 9 detectors, the instrument is capable of measuring up to 9 different isotopes simultaneously. The instrument also contains a magnet that creates an electric field for separating the different masses of interest. Measuring the relative abundances of the isotopes of an element provides a “fingerprint” of the element in that sample. This can help determine where an element - and by association the sample - may have come from geographically, what environmental factors may have impacted the sample, or can be used as a tracer in clinical specimens, among other applications.

Kate Smith, WSLH chemist and lead author on the article, analyzes samples using the Multicollector ICP-MS in the WSLH Trace Elements Clean Lab. The MC-ICPMS contains 9 Faraday detectors under high vacuum. Each detector can be tuned to measure the specific atomic mass of the individual isotopes of an element. With 9 detectors, the instrument is capable of measuring up to 9 different isotopes simultaneously. The instrument also contains a magnet that creates an electric field for separating the different masses of interest. Measuring the relative abundances of the isotopes of an element provides a “fingerprint” of the element in that sample. This can help determine where an element – and by association the sample – may have come from geographically, what environmental factors may have impacted the sample, or can be used as a tracer in clinical specimens, among other applications.

Wisconsin Nonfatal Work Injuries Decline in 2015

diff-types-of-workers_shutterstock_241319935_webAccording to estimates from the U.S. Bureau of Labor Statistics’ Survey of Occupational Injuries and Illnesses (SOII), there were 78,800 total injuries and illnesses reported by Wisconsin employers in 2015, which occurred at a rate of 3.6 cases per 100 equivalent full-time workers. This is a decline from 4.0 in 2013 and 2014.  Nationwide, the total injury and illness case rate declined from 3.4 to 3.3 per 100 full-time workers.

Background:     

SOII is the largest work injury data survey conducted nationwide. The Wisconsin Bureau of Labor Statistics program collects data annually from a representative sample of 6,000 establishments, with a 97% survey response rate.

Key findings:*

  • Private industry incident rates fell from 3.9 to 3.6. State and local government total injury rate decreased from 4.7 cases per 100 full time workers to 4.2. (see chart 1).
  • All general industry sectors (excl. information) show a decline in total injury rates from the prior year. (see chart 2).
  • An equal proportion of worker injuries required time off or job restrictions to recuperate (39,600) and other recordable injuries which required medical treatment only (39,200).
  • Public sector sub-industries with the highest injury rates include: State nursing and residential care facilities (15.7), Local transit and ground passenger transportation (8.0), and Local heavy and civil engineering (6.6). (see chart 3).
  • Private sector sub-industries with the highest injury rates include: Couriers and messengers (9.7), Nonmetallic mineral manufacturing (7.9), Wood product manufacturing (7.1), Nursing and residential care facilities (6.9), Primary metal manufacturing (6.8), and Fabricated metal manufacturing (6.6).

*For charts and tables of Wisconsin data, go to www.slh.wisc.edu/bls. Data for case circumstances and worker characteristics will be available online mid-November.

The Wisconsin State Laboratory of Hygiene, a part of the University of Wisconsin-Madison, is the state’s public, environmental and occupational health laboratory. The WSLH’s Bureau of Labor Statistics/Occupational Safety and Health Statistics Unit have a cooperative agreement with the US Bureau of Labor Statistics to conduct their annual Survey of Occupational Injuries and Illnesses and Census of Fatal Occupational Injuries in Wisconsin.

Test. Fix. Save a Life. – Radon Awareness Week

shutterstock_243426319_lung-trees_webDid you know the 2nd leading cause of lung cancer is an odorless, colorless, radioactive gas?

It’s called radon and it can be found in up to 10% of the homes in Wisconsin at levels above the U.S. Environmental Protection Agency (EPA) guideline.

And the only way to find it is to test for it.

October 17-25 is Radon Awareness Week and homeowners interested in testing their homes for radon have many options.

The Wisconsin State Laboratory of Hygiene offers radon testing.

Homeowners can also contact Radon Information Centers or certified radon measurement contractors for testing or buy a test kit at a hardware store.

For more information on radon, health concerns, and a list certified radon reduction contractors, please see the WI Division of Health Services radon website at lowradon.org.

 

CDC Designates WSLH an Antibiotic Resistance Regional Lab

ar-lab-network-logoThe Centers for Disease Control and Prevention (CDC) has designated the WSLH Communicable Disease Division (WSLH CDD) an Antibiotic Resistance (AR) Regional Lab for the Midwest Region.

The WSLH is just 1 of 7 AR Regional Labs nationwide and will provide testing for Wisconsin, Michigan, Illinois, Indiana, Ohio and Kentucky.

 

According to the CDC, antibiotic resistance in the United States:

  • Sickens >2 million people per year
  • Kills at least 23,000 people each year + 15,000 each year from C. difficile
  • >$20B/year in healthcare costs
  • Threatens modern medicine – If we lose antibiotics, we lose the ability to treat patients with sepsis, cancer, provide organ transplants, and save victims of burns and trauma
  • Need to act now or even drugs of last resort will soon be ineffective

Part of the CDC’s AR Lab Network, the 7 AR Regional Labs are a critical component in building comprehensive laboratory capacity to detect and better characterize antibiotic-resistant pathogens. These labs will implement a regional approach to generate real-time, actionable data to prevent and combat AR threats.

According to the CDC’s AR Lab Network website:

“…labs designated as regional labs will be able to detect existing and emerging types of antibiotic resistance with gold-standard lab capacity, investigate emerging resistance faster and more effectively, and generate stronger data for improved infection control among patients to prevent and combat future resistance threats. … The regional labs will ensure more consistent and improved communication, coordination, and tracking at all levels—across healthcare facilities, state health departments, and CDC—every time. …”

All regional labs will perform core testing for their region, including:

  • Molecular testing to detect colonization of carbapenem-resistant Enterobacteriaceae (CRE)
  • Threat assessments, special threat assessments by request on new or known threats like MRSA, VRE, and VRSA
  • Isolate collection for use in CDC’s AR Isolate Bank and whole genome sequencing projects

In addition, the WSLH will perform testing for:

  • Reflex Culture pilot with Salmonella and Entertoxigenic E. coli
  • Antimicrobial susceptibility and serotyping of multidrug-resistant Streptococcus pneumoniae

WSLH CDD is also a CDC Reference Center for influenza surveillance, vaccine-preventable diseases, and foodborne/enteric diseases.

 

arln-map-region-1250x630

Water, Public Health and the WSLH’s Early History

summer-2016-wi-mag-of-history-coverThe Wisconsin State Laboratory of Hygiene’s (WSLH) early history is recounted in an article in the summer 2016 issue of the Wisconsin Magazine of History.

The article focuses on how changing beliefs about water and public health influenced the founding of the state’s public health laboratory at the University of Wisconsin-Madison in 1903.

For more than 100 years, WSLH scientists and staff have worked to protect the people and environment of Wisconsin – putting the Wisconsin Idea into action every day.

 

“… Medical societies, Wisconsin industries, and communities alike acknowledged the urgent demand for a state hygiene laboratory.

“After some deliberation, the University of Wisconsin-Madison campus became the decided location for the state hygiene laboratory. Prior to establishment, a few key figures aided in making the university an ideal site. Bacteriological methodology had already been established at the university with Edward A. Birge and Harry L. Russell.44 Technically the only professor in the biology department upon his arrival in 1875, Birge organized a course in bacteriology for students.45 Russell became the first official  appointment in bacteriology in 1893, which was established as a subdiscipline in the Department of Agriculture.46 Birge became the president of the university twice, and Russell was one of two men to persuade the state legislature to establish the Wisconsin State Hygiene Laboratory.47

“Dr. Cornelius A. Harper, Wisconsin’s first State Board of Health secretary and later state health officer, became Russell’s partner in efforts to persuade the legislature to allocate funding for a hygiene laboratory.48 Russell and Birge had studied directly under Robert Koch and Louis Pasteur in Europe, and Harper and Russell were students of Birge during their careers at the University of Wisconsin.49 This unique triangle of men, fluent in the new language of bacteriology and closely tied to public health in Wisconsin, positioned the laboratory for future growth. …”

Wisconsin State Laboratory of Hygiene: Changing Beliefs on Water and Public Health“,  by Anna W. Davis,
Wisconsin Magazine of History Summer 2016

 

 

 

Flowing Waters in Guatemala

By Dr. Pat Gorski, WSLH Environmental Health Division

As a member of the American Water Works Association (AWWA), I have long noticed that the Wisconsin chapter has a committee — Wisconsin Water for the World — that works to provide resources for safe drinking water and improved sanitation to people in developing communities throughout the world.

Dr. Pat Gorski sampling spring water in a buried cistern for coliform bacteria and E. coli testing.

Dr. Pat Gorski sampling spring water in a buried cistern for coliform bacteria and E. coli testing.

This past March, my wife Madeline and I finally decided to go on one of their service trips to a rural village in Guatemala (Tzay), which is near the city of Solola. WSLH retiree Archie Degnan also went on the trip. Our team also consisted of Rotary members from Kenosha, WI, and Florida. Although the team was there for two weeks, Madeline and I only went for the final week.

The project would not have been possible without prior work done by the village, which was coordinated by Lynn Roberts, an American who lives in Guatemala full-time, and a local engineer. We also greatly benefited by having two local interpreters, Leo and Jose, who spoke English, Spanish and the local Mayan dialect (K’iche’, or called “Ketchikan”).

This specific project collected spring water at the base of a hill into a large storage tank and then pumped it up to the top of a hill into a second large storage tank, which then gravity-fed the water to roughly 50 households. Typically, the village does not have dependable drinking water availability (only 30 minutes per day on average); therefore drinking water has to be physically hauled daily from the spring up to each house.

The storage tanks had to be built on-site with concrete and rebar, as well as concrete platforms for the household wash basins, which serve as the sole source of water for each house. All the trenches for piping had to be dug by hand, as well as connecting and laying the PVC pipe.

The project provided clean dependable drinking water for the village, but also proper drainage for used waste water. I was able to do on-site confirmatory testing of the drinking water for nitrate, coliform and E.coli bacteria.

The work was very satisfying and we felt much appreciated by the villagers, especially the kids, although we couldn’t speak much Spanish. It was a great reality adjustment to see how a large portion of the world lives and experience first-hand that not everyone can easily turn on a tap to get instantaneous drinking water.

The implementation team was a great group of people to work with. We definitely had to be very flexible in our daily expectations, but we successfully had water flowing to the taps by the end of the trip, followed by the entire village turning out for a wonderful celebration.

 

Pat and his wife Madeline build a rebar cage for cement platforms to hold a wash basin. The wash basin will be the source of water for a house.

Pat and his wife Madeline build a rebar cage for cement platforms to hold a wash basin. The wash basin will be the source of water for a house.

 

 

 

 

 

 

 

 

 

Dr. Pat Gorski holds a test strip that tests for both nitrate and nitrite. The test strips are a quick and easy way to test on-site without other analytical equipment. The strip shows 5 ppm nitrate, which is below the EPA limit of 10 ppm – so the water is fine in regard to nitrate.

Dr. Pat Gorski holds a test strip that tests for both nitrate and nitrite. The test strips are a quick and easy way to test on-site without other analytical equipment. The strip shows 5 ppm nitrate, which is below the EPA limit of 10 ppm – so the water is fine in regard to nitrate.

 

 

 

 

 

 

 

 

 

 

 

 

Guatemala water well construction celebration

During a celebration of the newly flowing water, a woman from the village catches water in a pitcher.

Family Stories Tell Hope-Filled Tales of Newborn Screening

Logan just celebrated his 1st birthday and he's doing great!

Logan just celebrated his 1st birthday and he’s doing great!

Of the 65,000 babies born in Wisconsin each year, about 135 will have one of the 44 rare, serious disorders screened for by the Wisconsin State Laboratory of Hygiene Newborn Screening Laboratory.

The stories of some of those babies are shared in our Family Stories section.

Read all about them at https://www.slh.wisc.edu/clinical/newborn/family-stories/

Powassan virus and Jamestown Canyon virus added to Arbovirus IgM Antibody Panel

Powassan virus (POWV) and Jamestown Canyon virus (JCV) have been added to the WSLH Arbovirus IgM Antibody Panel. This panel already includes testing for West Nile virus, La Crosse virus, Eastern equine encephalitis virus, and St. Louis encephalitis virus IgM antibodies. The test panel uses a qualitative IgM capture ELISA to detect antibodies against these viruses.

Powassan virus (POWV) – In Wisconsin, POWV is a rare tick-borne infection transmitted by the bite of infected deer/black-legged ticks (Ixodes scapularis).  The first case of POWV was identified in Wisconsin in 2003. Only a handful of POWV cases are reported each year, but the disease is likely underreported because of the lack of routine laboratory testing. In 2013, 5 cases of POWV were identified, with 3 of those being neuro-invasive disease. Signs and symptoms include acute onset of fever, muscle weakness, confusion, headache, nausea, vomiting, and stiff neck.  Severe illness can include confusion, paralysis, speech difficulties, memory loss, and meningoencephalitis.

Jamestown Canyon virus (JCV) – JCV was first recognized as causing human illness in 1980 and rarely has been reported in Wisconsin. However, like POWV it is likely underreported because of the unavailability of laboratory tests to detect infection. In 2013, 22 cases were reported in the United States. JCV is a member of the California serogroup viruses that includes the mosquito-borne viruses California encephalitis, Keystone, La Crosse, snowshoe hare and trivittatus.  Initial symptoms of illness may include fever, headache, nausea, vomiting, and fatigue. Severe symptoms often involve encephalitis and can include seizures, coma, and paralysis.

Diagnostic Testing

  • Arborvirus IgM Antibody Panel: Test Code SS02201
  • Methodology: Qualitative IgM capture ELISA for JCV, POWV, EEE and LAC;  Microsphere immunoassay (MIA) for WNV/SLE
  • Specimen Types: Serum, 1-3 ml; Both serum and CSF, minimum 500 ul, for patients with possible encephalitis
  • Specimen Handling: Specimens must be stored and transported to the lab at 2-8C (refrigerated with cool packs)
  • Turn-around Time: One week
  • Results: Negative, Presumptive Positive or Nonspecific for MIA.  Numeric value and interpretation as Negative, Equivocal, Presumptive Positive, or Uninterpretable for IgM capture ELISA
  • CPT Codes: 86651, 86652, 86653, 86788, 86790 x 3
  • Price: $425

June 1, 2016 Announcement Memo